[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"fabry-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:fabry-disease":31},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,41,0,25,[9,52,84,114,136,164,192,217,239,264,286,308,332,364,385,420,447,468,490,515,536,553,580,602,629],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":16,"eligibilityCriteria":17,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":35,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":51},"100638972","periodontal-disease-in-rare-renal-disorders-perio-ra-re-100638972",false,"NCT07575347","Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)","Periodontal Inflammation in Rare Renal Disorders - A Cross-Sectional Controlled Observational Study Assessing the Burden and Phenotypes of Periodontal Disease","PERIO-RA-RE","Inclusion Criteria:\n\n* Age ≥18 years\n* Ability to provide written informed consent\n* At least 10 natural teeth present\n* Belonging to one of the predefined study groups:\n\n  1. Alport syndrome (genetically or clinically confirmed)\n  2. Fabry disease (enzymatically or genetically confirmed)\n  3. Tuberous sclerosis complex (according to established clinical or genetic criteria)\n  4. Systemic lupus erythematosus defined according to the 2019 EULAR\u002FACR or SLICC 2012 classification criteria, with renal involvement defined by at least one of the following: \\[1\\] Biopsy-proven lupus nephritis, \\[2\\] Persistent proteinuria (\\>0.5 g\u002Fday or equivalent), \\[3\\] Active urinary sediment (hematuria and\u002For cellular casts) consistent with lupus nephritis\n  5. Chronic kidney disease (CKD) of non-rare etiology: defined according to KDIGO criteria (eGFR \\\u003C60 ml\u002Fmin\u002F1.73 m² and\u002For markers of kidney damage)\n  6. Individuals without CKD, recruited from clinical or dental care settings as non-CKD controls\n\nExclusion Criteria:\n\n* Periodontal treatment within the last 6 months\n* Antibiotic therapy within the last 4 weeks\n* Pregnancy\n* Conditions precluding periodontal examination\n* Inability to comply with study procedures","ALL","18 Years",{"count":21,"type":22},100,"ESTIMATED","OBSERVATIONAL","This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus erythematosus (SLE), compared with chronic kidney disease (CKD) controls and population controls.\n\nThis is a cross-sectional, case-control observational study. Participants will undergo a single structured evaluation including a full-mouth periodontal examination, a clinical questionnaire, and collection of relevant clinical and nephrological data.\n\nThe primary objective is to compare the prevalence of periodontitis across study groups. Secondary objectives include characterization of periodontal disease severity, prevalence of gingivitis and xerostomia, and identification of disease-specific oral phenotypes.\n\nExploratory analyses will assess associations between periodontal disease and clinical variables such as kidney function, proteinuria, and immunosuppressive exposure.",[26,27,28,29,30,31,32,33,34],"Periodontal Disease","Periodontitis","CKD","Chronic Kidney Disease","Alport Syndrome","Fabry Disease","Lupus or SLE","Tuberous Sclerosis Complex (TSC)","Systemic Lupus Erythematosus (SLE)",[26,27,28,36,37,38,33,29],"Rare Kidney Diseases","Alport syndrome","Systemic Lupus Erythematosus","RECRUITING","2026-06-24",{"date":42,"type":43},"2026-06-26","ACTUAL",{"date":45,"type":43},"2026-05-04",{"date":47,"type":22},"2027-12-31",{"name":49,"class":50},"Stefan Lujinschi","OTHER",1,{"id":53,"slug":54,"hasResults":12,"nctId":55,"briefTitle":56,"officialTitle":57,"acronym":4,"eligibilityCriteria":58,"healthyVolunteers":12,"sex":18,"minAge":59,"maxAge":60,"enrollmentInfo":61,"targetDuration":4,"studyType":63,"phases":64,"briefSummary":66,"conditions":67,"keywords":68,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":83},"100585584","phase-3-a-study-of-migalastat-in-pediatric-subjects-2-to-12-yrs-with-fabry-disease-and-amenable-gla-variants-100585584","NCT06904261","A Study of Migalastat in Pediatric Subjects (2 to \u003C12 Yrs) With Fabry Disease and Amenable GLA Variants","An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 2 to \u003C 12 Years) With Fabry Disease and Amenable GLA Variants","Inclusion Criteria\n\n* Male or female subjects, diagnosed with Fabry disease who are between ages 2 and \\\u003C 12 years at randomization (subjects aged 11 years must have birthdays \\> 30 days after randomization)\n* Subject's parent or legally authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent, if applicable.\n* Subject has a GLA variant documented in his\u002Fher medical record that is amenable to migalastat prior to Visit 2.\n* Subject has not received ERT (eg, Replagal® \\[agalsidase alfa\\] or Fabrazyme® \\[agalsidase beta\\]) for at least 14 days prior to Baseline visit.\n* Subject has at least 1 documented complication (ie, historical or current laboratory abnormality or sign\u002Fsymptom) of Fabry disease\n* If of reproductive potential, both male and female subjects agree to use a medically accepted method of contraception throughout the duration of the study and for up to 30 days after their last dose of migalastat.\n\nExclusion Criteria\n\n* Has moderate or severe renal impairment (eGFR \\\u003C 60 mL\u002Fmin\u002F1.73 m2 at Visit 1 \\[screening\\]).\n* Has advanced kidney disease requiring dialysis or kidney transplantation.\n* History of allergy or sensitivity to migalastat (including excipients) or other iminosugars (eg, miglustat, miglitol).\n* Has received any investigational\u002Fexperimental drug, biologic, or device within 30 days or 5 half-lives of the investigational product (whichever is longer) before Visit 1 (screening).\n* Has received any gene therapy at any time or anticipates starting gene therapy during the study period.\n* Requires treatment with Glyset (miglitol) or Zavesca (miglustat), within 6 months before Visit 1(screening) or throughout the study.\n* Has any intercurrent illness or condition at Visit 1 (screening) or Visit 2 (baseline) that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator that the potential subject may have an unacceptable risk by participating in this study.\n* Pregnant or breastfeeding\n* Otherwise unsuitable for the study in the opinion of the investigator","2 Years","11 Years",{"count":62,"type":22},8,"INTERVENTIONAL",[65],"PHASE3","An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to \\\u003C 12 years of age with Fabry disease and with amenable GLA variants.",[31],[69,70,71,72],"migalastat","AT1001","Galafold","lysosomal disease","2026-06-23",{"date":75,"type":43},"2026-06-25",{"date":77,"type":43},"2026-01-08",{"date":79,"type":22},"2028-12",{"name":81,"class":82},"Amicus Therapeutics","INDUSTRY",11,{"id":85,"slug":86,"hasResults":12,"nctId":87,"briefTitle":88,"officialTitle":89,"acronym":4,"eligibilityCriteria":90,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":91,"targetDuration":93,"studyType":23,"phases":4,"briefSummary":94,"conditions":95,"keywords":96,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":105,"lastUpdatePostDateStruct":106,"startDateStruct":107,"completionDateStruct":109,"leadSponsor":111,"locationsCount":113},"100072469","fabry-disease-registry--pregnancy-sub-registry-100072469","NCT00196742","Fabry Disease Registry & Pregnancy Sub-registry","Fabry Disease Registry Protocol","Inclusion Criteria\n\n* Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and\u002For mutation(s) in the gene coding for αGAL.\n* Fabry Pregnancy Sub-registry:\n\n  * Eligible women must:\n\n    * be enrolled in the Fabry Registry.\n    * be pregnant, or have been pregnant with appropriate medical documentation available.\n    * provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.\n\nExclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.",{"count":92,"type":22},9000,"52 Weeks","The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.\n\nThe primary objectives of the Registry are:\n\n* To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease;\n* To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;\n* To characterize and describe the Fabry population as a whole;\n* To evaluate the long-term safety and effectiveness of Fabrazyme®\n\nFabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development\u002Freimbursement, and for other research and non-research-related purposes. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.",[31],[97,98,99,100,101,102,103,104],"alpha Galactosidase A","aGAL (alpha-galactosidase)","Fabry","GL3 (globotriaosylceramide)","Anderson-Fabry Disease","angiokeratomas","GLA deficiency (gene deficiency)","errors in metabolism","2026-06-19",{"date":73,"type":43},{"date":108,"type":43},"2001-07-31",{"date":110,"type":22},"2034-01-31",{"name":112,"class":82},"Genzyme, a Sanofi Company",284,{"id":115,"slug":116,"hasResults":12,"nctId":117,"briefTitle":118,"officialTitle":119,"acronym":4,"eligibilityCriteria":120,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":121,"targetDuration":123,"studyType":23,"phases":4,"briefSummary":124,"conditions":125,"keywords":126,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":128,"lastUpdatePostDateStruct":129,"startDateStruct":131,"completionDateStruct":133,"leadSponsor":135,"locationsCount":62},"100585745","a-study-of-patients-with-fabry-disease-us-specific-100585745","NCT06906367","A Study of Patients With Fabry Disease (US Specific)","A Prospective, Observational Study of Patients With Fabry Disease (US Specific)","I. Migalastat-treated patients (Commercial only participants)\n\n1. Patients with Fabry disease 18 years or older with amenable GLA variants who have commenced commercial migalastat treatment within 24 months preceding enrollment, who have an eGFR greater than or equal to 30 mL\u002Fmin\u002F1.73 m2 at the time of enrollment and are still taking migalastat at the time of enrollment, or who are starting migalastat at the time of enrollment, excluding those who participated in a prior migalastat clinical trial\n2. Patients who show a decline in their Fabry disease symptomatology based on any of the following:\n\n   1. a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL\u002Fmin\u002F1.73 m2 during the 2 years prior to enrollment\n   2. microalbuminuria\u002Fmacroalbuminuria (≥ 30 mg\u002F24 h or ≥ 20 mg on first morning urine) or urine ACR of ≥ 30 mg\u002Fg (via spot urine collection) at any time prior to or at enrollment\n   3. proteinuria (\\> 0.5 g\u002Fg UPCR) any time prior to or at enrollment\n   4. males with classic Fabry disease phenotype\n\nII. Migalastat-treated patients who are not considered to be in renal decline (Commercial migalastat users only)\n\n1\\. Patients with Fabry disease with amenable GLA variants who have been on commercial migalastat regardless of the duration of treatment\n\nIII. Migalastat-treated patients (Prior clinical trial participants)\n\n1. Patients with Fabry disease 18 years or older who had commenced treatment with migalastat while in a clinical trial and were exposed to treatment for at least 24 months preceding enrollment, who have an eGFR greater than or equal to 30 mL\u002Fmin\u002F1.73 m2 at the time of enrollment, and who are still taking migalastat at the time of enrollment, having switched to commercial product\n\nIV. Untreated patients\n\n1. Patients with Fabry disease 18 years or older with amenable GLA variants, who have never been on treatment for Fabry disease, who have an eGFR greater than or equal to 30 mL\u002Fmin\u002F1.73 m2 at the time of enrollment, and who meet local treatment guidelines for Fabry disease\n2. Patients who show a decline in their Fabry disease symptomatology based on any of the following:\n\n   1. a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL\u002Fmin\u002F1.73 m2 during the 2 years prior to enrollment\n   2. microalbuminuria\u002Fmacroalbuminuria (≥ 30 mg\u002F24 h or ≥ 20 mg on first morning urine) or urine ACR of ≥ 30 mg\u002Fg (via spot urine collection) at any time prior to or at enrollment\n   3. proteinuria (\\> 0.5 g\u002Fg UPCR) any time prior to or at enrollment\n   4. males with classic Fabry disease phenotype\n\nV. ERT-treated patients\n\n1. Patients with Fabry disease 18 years or older who have commenced ERT within 24 months preceding enrollment, who have an eGFR greater than or equal to 30 mL\u002Fmin\u002F1.73 m2 at the time of enrollment and are still being treated with ERT at the time of enrollment, and who have amenable GLA variants\n2. Patients who show a decline in their Fabry disease symptomatology based on any of the following:\n\n   1. a decrease in eGFRCKD-EPI annualized rate of decline of ≥ 2 mL\u002Fmin\u002F1.73 m2 during the 2 years prior to enrollment\n   2. microalbuminuria\u002Fmacroalbuminuria (≥ 30 mg\u002F24 h or ≥ 20 mg on first morning urine) or urine ACR of ≥ 30 mg\u002Fg (via spot urine collection) at any time prior to or at enrollment\n   3. proteinuria (\\> 0.5 g\u002Fg UPCR) any time prior to or at enrollment\n   4. males with classic Fabry disease phenotype\n\nAll patients 1. All treated and untreated patients with Fabry disease who are enrolled in the study must be able to understand and provide written informed consent or assent.\n\nExclusion Criteria\n\n1\\. Patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment",{"count":122,"type":22},450,"5 Years","This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.",[31],[69,70,127,72],"registry","2026-05-14",{"date":130,"type":43},"2026-05-18",{"date":132,"type":43},"2026-02-13",{"date":134,"type":22},"2032-06",{"name":81,"class":82},{"id":137,"slug":138,"hasResults":12,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":142,"eligibilityCriteria":143,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":144,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":146,"conditions":147,"keywords":148,"overallStatus":155,"whyStopped":4,"lastUpdateSubmitDate":45,"lastUpdatePostDateStruct":156,"startDateStruct":158,"completionDateStruct":160,"leadSponsor":161,"locationsCount":51},"100636074","quality-of-life-in-adults-with-untreated-fabry-disease-in-sweden-qoluf-100636074","NCT07560956","Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)","Quality of Life in Patients With Untreated Fabry Disease: A National Descriptive Study","QoLUF","Inclusion Criteria:\n\n* Age 18 years or older\n* Confirmed diagnosis of Fabry disease\n* Followed at a National Highly Specialized Care (NHV) center for Fabry disease in Sweden (Sahlgrenska University Hospital or Karolinska University Hospital)\n* Not currently receiving disease-specific treatment for Fabry disease (such as enzyme replacement therapy or chaperone therapy)\n* Treatment may be considered in the future\n* Ability to understand and speak Swedish\n* Ability and willingness to provide written informed consent\n\nExclusion Criteria:\n\n* Current or planned disease-specific treatment for Fabry disease\n* Disease-specific treatment deemed permanently not indicated due to other medical conditions\n* Actively declined an offered disease-specific treatment\n* Inability to participate in a qualitative interview",{"count":145,"type":22},35,"Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific treatment, for example because treatment criteria have not yet been met. There is limited knowledge about how patients experience this period without treatment.\n\nThe purpose of this study is to improve understanding of how adults with Fabry disease who are not yet receiving disease-specific treatment experience their quality of life, their daily lives, and their contacts with health care services.\n\nThis is a national interview study in which participants will take part in one individual digital interview lasting approximately 45-60 minutes. During the interview, participants will be invited to describe their experiences in their own words, including symptoms, how the disease affects everyday life, psychological and emotional well-being, and experiences of follow-up and support from health care providers. Participants will also complete a short questionnaire with basic background information, such as age, education, and living situation.\n\nBy collecting and analyzing patients' own narratives, the study aims to identify needs, challenges, and support resources during the period without treatment. The results are expected to contribute to increased knowledge and to the development of more person-centered care for individuals living with Fabry disease.",[31],[149,150,151,152,153,154],"Fabry disease","Quality of life","Patient experiences","Qualitative interview study","Rare diseases","Patient-reported outcomes","NOT_YET_RECRUITING",{"date":157,"type":43},"2026-05-08",{"date":159,"type":22},"2026-05-01",{"date":47,"type":22},{"name":162,"class":163},"Vastra Gotaland Region","OTHER_GOV",{"id":165,"slug":166,"hasResults":12,"nctId":167,"briefTitle":168,"officialTitle":168,"acronym":169,"eligibilityCriteria":170,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":171,"targetDuration":4,"studyType":63,"phases":173,"briefSummary":175,"conditions":176,"keywords":177,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":183,"lastUpdatePostDateStruct":184,"startDateStruct":186,"completionDateStruct":188,"leadSponsor":190,"locationsCount":51},"100428209","fabry-cardiomyopathy-identification-of-early-myocardial-structural-and-tissue-abnormalities-using-multiparametric-mri-100428209","NCT04856059","Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI","FIESTA-MRI","Inclusion Criteria:\n\n* Fabry disease;\n* Age ≥ 18 years.\n\nExclusion Criteria:\n\n* History of myocardial infarction;\n* Contraindication to MRI.",{"count":172,"type":22},300,[174],"NA","This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.",[31],[149,178,179,180,181,182],"Fabry cardiomyopathy","cardiac MRI","CMR","T1 mapping","T2mapping","2026-04-13",{"date":185,"type":43},"2026-04-16",{"date":187,"type":43},"2021-06-15",{"date":189,"type":22},"2029-03-31",{"name":191,"class":50},"University Health Network, Toronto",{"id":193,"slug":194,"hasResults":12,"nctId":195,"briefTitle":196,"officialTitle":197,"acronym":198,"eligibilityCriteria":199,"healthyVolunteers":12,"sex":200,"minAge":4,"maxAge":4,"enrollmentInfo":201,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":203,"conditions":204,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":207,"lastUpdatePostDateStruct":208,"startDateStruct":210,"completionDateStruct":212,"leadSponsor":214,"locationsCount":216},"100588409","maternal-and-postnatal-outcomes-study-mos-a-global-observational-registry-assessing-the-safety-of-elfabrio-in-women-with-fabry-disease-and-their-infants-during-pregnancy-and-breastfeeding-100588409","NCT06941025","Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding","Maternal and Postnatal Outcomes Study (MOS) A Worldwide Decentralized Observational Registry to Evaluate the Safety in Women With Fabry Disease and Their Infants Exposed to Elfabrio® (Pegunigalsidase Alfa-iwxj\u002FPegunigalsidase Alfa) During Pregnancy and\u002For Lactation","MOS","Inclusion Criteria:\n\n* Female patients with Fabry disease who have been exposed to at least 1 dose of pegunigalsidase alfa at any time during pregnancy (defined as having received pegunigalsidase alfa within 30 days prior to the DOC and\u002For during pregnancy) and\u002For during lactation, and their infants.\n\n  o DOC, defined as 20\u002F7 gestational weeks, will be calculated from last menstrual period \\[LMP\\] or ultrasound\n* Patient or parent\u002Flegally authorized representative must be able to understand and provide consent through an Institutional Review Board \u002F Independent Ethics Committee (IRB\u002FIEC) approved Informed Consent Form.\n\nExclusion Criteria:\n\n* None","FEMALE",{"count":202,"type":22},10,"The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa within 30 days prior to conception and\u002For during pregnancy and lactation.\n\nThe main objectives are to:\n\n* Assess pregnancy outcomes, including maternal and infant health.\n* Evaluate the occurrence of congenital malformations and other neonatal outcomes.\n\nThis is a global, decentralized, single-arm, prospective and retrospective registry planned to enroll participants over a 10-year period. Eligible patients may be enrolled by their physician or may self-enroll, where permitted by local regulations. Data will be collected through a secure web-based platform, allowing patients and physicians to enter information via electronic case report forms (eCRFs).\n\nPregnancy and clinical outcomes will be documented throughout pregnancy and up to 12 months post-birth. Data from self-enrolled patients will be confirmed by their primary care or attending physician. This registry is observational and does not impact clinical care or treatment decisions.",[31,205,206],"Pregnancy","Pregnancy Complications","2026-03-17",{"date":209,"type":43},"2026-03-19",{"date":211,"type":43},"2025-05-23",{"date":213,"type":22},"2034-12",{"name":215,"class":82},"Chiesi Farmaceutici S.p.A.",5,{"id":218,"slug":219,"hasResults":12,"nctId":220,"briefTitle":221,"officialTitle":222,"acronym":223,"eligibilityCriteria":224,"healthyVolunteers":12,"sex":18,"minAge":59,"maxAge":225,"enrollmentInfo":226,"targetDuration":4,"studyType":63,"phases":228,"briefSummary":230,"conditions":231,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":207,"lastUpdatePostDateStruct":232,"startDateStruct":233,"completionDateStruct":235,"leadSponsor":237,"locationsCount":238},"100541342","phase-2-a-study-to-learn-about-the-safety-and-effects-of-the-study-drug-prx-102-in-children-and-adolescents-with-fabry-disease-100541342","NCT06328608","A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease","Multi-centre, Open-label Trial to Assess the saFety, Pharmacodynamics, Efficacy and Pharmacokinetics of pegunigaLsidase Alfa in Patients From 2 Years to Less Than 18 Years of Age With Confirmed FabrY Disease","FLY","Inclusion Criteria:\n\n* Participants with the provision of informed consent from their legal guardians\n* Boys and girls aged 2 to 7 years (Cohort A), 8 to 12 years (Cohort B), or 13 to \\\u003C18 years (Cohort C).\n* Confirmed diagnosis of Fabry disease\n* Presence of at least one of the following characteristic features of Fabry disease: neuropathic pain, cornea verticillata, and\u002For clustered angiokeratoma.\n* History of Fabry pain: Fabry crises OR chronic pain.\n* Clinical condition that, in the investigator's opinion, requires ERT treatment.\n\nExclusion Criteria:\n\nAll Subjects:\n\n* Estimated glomerular filtration rate (eGFR) at screening \\\u003C 80 mL\u002Fmin\u002F1.73 m2.\n* History of type I hypersensitivity reactions (anaphylactic or anaphylactoid life-threatening reaction) to other ERT treatment for Fabry disease or any component of the study drug.\n* Initiation of treatment with an angiotensin-converting enzyme inhibitor (ACEi) or angiotensin II receptor blocker (ARB) or a dose change in ongoing treatment in the four weeks before screening.\n* Urine protein to creatinine ratio (UPCR) \\> 0.5 g\u002Fg (0.5 mg\u002Fmg or 500 mg\u002Fg) if not treated with an ACE inhibitor or ARB.\n* Currently taking another investigational drug for any condition.\n* History of acute kidney injury in the 12 months before screening, including specific kidney diseases (e.g., acute interstitial nephritis, acute glomerular and vasculitic renal diseases); non-specific conditions (e.g., ischaemia, toxic injury); or extrarenal pathology (e.g., prerenal azotaemia, acute postrenal obstructive nephropathy).\n* History of renal dialysis or kidney transplantation.\n* History of or current malignancy requiring treatment.\n* Severe cardiomyopathy or significant unstable cardiac disease within six months before screening.\n* A positive test for Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) within three months before screening.\n* Presence of any medical, emotional, behavioural, or psychological condition that, in the Investigator's judgement, could interfere with the subject's compliance with the requirements of the study.\n\nAdditional Exclusion Criteria for Subjects Enrolled in Stage I:\n\n* Female\n* Non-classic form of Fabry disease\n* Receipt of treatment for Fabry disease within six months before screening\n* Positive for anti-PRX-102 antibodies at screening\n\nAdditional Exclusion Criteria for Subjects in Stage II (i.e., non-treatment naïve males or females):\n\n* Unwilling to discontinue current ERT treatment for Fabry disease before baseline.\n* Females: Pregnant or lactating, or of childbearing potential with a fertile male partner and unwilling to use a highly reliable method of contraception from the informed consent signature until 30 days after the last infusion.","17 Years",{"count":227,"type":22},22,[229,65],"PHASE2","A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.",[31],{"date":209,"type":43},{"date":234,"type":43},"2025-07-29",{"date":236,"type":22},"2031-04",{"name":215,"class":82},12,{"id":240,"slug":241,"hasResults":12,"nctId":242,"briefTitle":243,"officialTitle":243,"acronym":244,"eligibilityCriteria":245,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":246,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":248,"conditions":249,"keywords":250,"overallStatus":155,"whyStopped":4,"lastUpdateSubmitDate":255,"lastUpdatePostDateStruct":256,"startDateStruct":258,"completionDateStruct":260,"leadSponsor":262,"locationsCount":51},"100630283","care-pathway-for-patients-with-fabrys-disease-fabry-path-100630283","NCT07485660","Care Pathway for Patients With Fabry's Disease (Fabry-PATH)","Fabry-PATH","Inclusion Criteria:\n\n* Adult patient diagnosed with Fabry's disease\n\nExclusion Criteria:\n\n* Minor patients",{"count":247,"type":22},200,"Fabry's disease is an X-linked disorder that manifests differently in men and women, leading to differences in healthcare pathways. In women, the disease is sometimes diagnosed through family screening despite the presence of symptoms (symptoms appear later than in men, and the phenotypic expression of the disease is sometimes more subtle). Conversely, in men, the presence of symptoms combined with abnormalities in medical examinations facilitates diagnosis. There is limited data on the differences in healthcare pathways between men and women, which could nevertheless impact diagnosis by identifying a profile of at-risk patients, and consequently, their management.\n\nThe goal of this present study is to describe the differences in care pathways between men and women with Fabry's disease, distinguishing entry via symptoms or family screening through a non-interventional study based on a questionnaire sent to patients and on the collection of medical data at the time of diagnosis.",[31],[99,251,252,253,254],"Care pathway","Family screening","Symptoms","Comparison according to gender","2026-03-16",{"date":257,"type":43},"2026-03-20",{"date":259,"type":22},"2026-04",{"date":261,"type":22},"2026-11",{"name":263,"class":50},"University Hospital, Toulouse",{"id":265,"slug":266,"hasResults":12,"nctId":267,"briefTitle":268,"officialTitle":269,"acronym":270,"eligibilityCriteria":271,"healthyVolunteers":12,"sex":18,"minAge":272,"maxAge":273,"enrollmentInfo":274,"targetDuration":4,"studyType":63,"phases":276,"briefSummary":277,"conditions":278,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":255,"lastUpdatePostDateStruct":279,"startDateStruct":281,"completionDateStruct":283,"leadSponsor":285,"locationsCount":202},"100493863","phase-2-study-to-evaluate-the-safety-pk-pd-and-efficacy-of-prx-102-in-japanese-patients-with-fabry-disease-100493863","NCT05710692","Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease","A Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE)","RISE","Inclusion criteria (all subjects)\n\n1. Must have been born in Japan and have their biological parents and all 4 grandparents of Japanese descent\n2. A documented diagnosis of Fabry disease, as determined by the following:\n\n   * Males: Plasma and\u002For leukocyte alpha-galactosidase-A activity (by activity assay) that is ≤ 5% of mean normal laboratory levels or, if the enzymatic activity is above the 5% limit but still under the normal level, a confirmed disease-causing mutation of the GLA gene\n   * Females: Historical genetic test results consistent with Fabry mutations or, in the case of novel mutations, a first-degree male relative with Fabry disease\n   * All subjects: At least one of the following characteristic features of Fabry disease: neuropathic pain, cornea verticillata, and\u002For clustered angiokeratoma\n3. Estimated glomerular filtration rate (eGFR) at screening ≥40 mL\u002Fmin\u002F1.73 m2. For adults, this will be calculated using the Japanese Modified Chronic Kidney Disease Epidemiology Collaboration (JPN-CKD-EPI) Creatinine equation (2009); and for adolescents, it will be calculated using the Creatinine Cystatin C-based Chronic Kidney Disease in Children (CKiD) equation.\n4. Clinical condition that in the opinion of the Investigator requires treatment with ERT\n5. A female subject (including an adolescent in Cohort C, if applicable) must meet one of the following criteria:\n\n   * If of childbearing potential, she must:\n\n     * Have a negative serum pregnancy test result at screening, AND\n     * Agree to undergo a urine pregnancy test at baseline and every 12 weeks thereafter up to the final treatment, AND\n     * Agree to use one of the following highly reliable methods of contraception from the day of the informed consent signature until 30 days after the last infusion received. The following methods are acceptable:\n\n       * Placement of an intrauterine device (IUD) or intrauterine system (IUS)\n       * Combined (both oestrogen and progestogen) hormonal contraception (oral) associated with inhibition of ovulation, supplemented with a barrier method (preferably male condom)\n       * Bilateral tubal occlusion\n       * Sexual abstinence, defined as refraining from heterosexual intercourse during the entire study period\n       * Partner vasectomy, provided that the partner is the sole sexual partner and has received medical verification of the surgical success\n   * Be of non-childbearing potential, defined as one of the following:\n\n     * Post-menopausal (12 consecutive months of amenorrhea), OR\n     * Permanently sterile following hysterectomy, bilateral salpingectomy, or bilateral oophorectomy (supporting evidence required)\n\nAdditional inclusion criteria for subjects in Cohort A\n\nFor subjects enrolled in Cohort A, these specific inclusion criteria, in addition to those above, apply:\n\n* Aged ≥18 to ≤70 years\n* Treatment with agalsidase beta or agalsidase alfa for at least the last 12 months prior to screening, with the dose stable (defined as having received at least 80% of the labelled dose) for at least the last 6 months\n* Diagnosis of kidney impairment, defined as a linear slope of eGFR more negative than or equal to -2 mL\u002Fmin\u002F1.73 m2\u002Fyear. The historical eGFR slope will be calculated based on at least 3 serum creatinine values obtained over the 9 to 24 months prior to screening, using the JPN-CKD-EPI Creatinine equation (2009). This criterion will be confirmed at screening by calculating the screening eGFR slope using historical and screening serum creatinine values. Both historical and screening eGFR slopes will be used for the diagnosis of kidney impairment.\n\nAdditional inclusion criterion for subjects in Cohort B\n\nFor subjects enrolled in Cohort B, this specific inclusion criterion, in addition to those above, applies:\n\n\\- Aged ≥18 to ≤70 years\n\nAdditional inclusion criteria for subjects in Cohort C\n\nFor subjects enrolled in Cohort C, these specific inclusion criteria, in addition to those above, apply:\n\n* Aged ≥13 to \\\u003C18 years\n* Subjects who have previously received or are currently receiving ERT treatment, must be negative for ADAs to PRX-102\n\nExclusion Criteria:\n\n1. Administration of ERT for Fabry disease within 14 days before baseline, substrate reduction therapy for Fabry disease within 3 days before baseline, or chaperone therapy for Fabry disease within 3 days before baseline\n2. History of type I hypersensitivity reactions (anaphylactic or anaphylactoid life-threatening reaction) to other ERT treatment for Fabry disease or to any component of the study drug\n3. Cohort A only: eGFR value of \\>90 to ≤120 mL\u002Fmin\u002F1.73 m2 at screening and a historical eGFR value \\>120 mL\u002Fmin\u002F1.73 m2 in the 9 to 24 months before screening, indicating absence of renal impairment. eGFR to be calculated using the JPN-CKD-EPI creatinine equation (2009).\n4. Urine protein to creatinine ratio (UPCR) \\>0.5 g\u002Fg (0.5 mg\u002Fmg or 500 mg\u002Fg) if not treated with an ACE inhibitor or ARB\n5. Initiation of treatment, or a change in dose to ongoing treatment, with an angiotensin-converting-enzyme inhibitor (ACEI) or angiotensin II receptor blocker (ARB) in the 4 weeks prior to screening.\n6. Currently taking another investigational drug for any condition\n7. Carry only known non-pathogenic Fabry mutations\n8. History of renal dialysis or kidney transplantation\n9. History of acute kidney injury in the 12 months prior to screening, including specific kidney diseases (e.g., acute interstitial nephritis, acute glomerular and renal vasculitis); non-specific conditions (e.g., ischemia, toxic injury); or extrarenal pathology (e.g., prerenal azotaemia, and acute postrenal obstructive nephropathy\n10. History of (or current) malignancy requiring treatment; the one exception is a prior history of resected basal cell carcinoma\n11. Severe cardiomyopathy or significant unstable cardiac disease within 6 months prior to screening\n12. A positive test for Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) within 3 months prior to screening, using a validated molecular assay or validated antigen assay\n13. Females: Pregnant or lactating, or of childbearing potential with a fertile male partner and unwilling to use a highly reliable method of contraception from the informed consent signature until 30 days after the last infusion received\n14. Presence of any medical, emotional, behaevioral, or psychological condition that in the judgment of the Investigator could interfere with the subject's compliance with the requirements of the study\n15. Previous treatment with cellular therapy or gene therapy for any condition","13 Years","70 Years",{"count":275,"type":22},16,[229,65],"The aim of this study is to evaluate the safety and efficacy of pegunigalsidase alfa in Japanese patients (adults and adolescents) affected by Fabry disease. It is planned of a total of approximately 16 male and female Fabry disease patients between the ages of 13 and 70 years to be part of the study. The study is conducted in Japan.",[31],{"date":280,"type":43},"2026-03-18",{"date":282,"type":43},"2023-08-01",{"date":284,"type":22},"2029-08",{"name":215,"class":82},{"id":287,"slug":288,"hasResults":12,"nctId":289,"briefTitle":290,"officialTitle":291,"acronym":4,"eligibilityCriteria":292,"healthyVolunteers":12,"sex":18,"minAge":293,"maxAge":4,"enrollmentInfo":294,"targetDuration":4,"studyType":63,"phases":295,"briefSummary":296,"conditions":297,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":298,"lastUpdatePostDateStruct":299,"startDateStruct":301,"completionDateStruct":303,"leadSponsor":305,"locationsCount":307},"100557554","evaluate-the-safety-and-preliminary-efficacy-of-exg110-in-subjects-with-fabry-disease-100557554","NCT06539624","Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease","A Multicenter, Non-randomized, Open-label, Dose-finding Study to Evaluate the Safety and Preliminary Efficacy of Gene Therapy With EXG110 in Subjects With Fabry Disease","Inclusion Criteria:\n\n1. At the time of signing the informed consent, age ≥7, male or female\n2. Clinical symptoms (at least one Fabry disease related symptom) and genetic diagnosis of Fabry disease,\n3. Prior or no prior ERT treatment\n4. Have renal or cardiac involvement (adults only)\n5. All subjects of reproductive age voluntarily took effective contraception and prohibited sperm donation from entering the screening period until 52 weeks after dosing (main study period)\n6. The subjects voluntarily participate and are fully informed, fully understand the research, can comply with the requirements of the research protocol, and are willing to complete the research as planned, and voluntarily provide biological samples for testing according to the requirements of the protocol\n\nExclusion Criteria:\n\n1. Screening period laboratory test results: a) aspartate aminotransferase or alanine aminotransferase \\> 1.5× upper limit of normal (ULN);b) Total bilirubin \\> 1.5× upper limit of normal (ULN);c) Alkaline phosphatase \\> 2× upper limit of normal (ULN);d) Albumin \\\u003C lower limit of normal (LLN)\n2. There was a clinically significant increase in AFP during the screening period\n3. Serum virology test: a) Hepatitis B: Hepatitis B virus surface antigen (HBsAg) positive, and hepatitis B virus-deoxyribonucleic acid (HBV-DNA) higher than the upper limit of normal detection;b) Hepatitis C: if the hepatitis C virus (HCV) antibody is positive, and the hepatitis C virus-ribonucleic acid (HCV-RNA) is higher than the upper limit of normal test value;c) Syphilis: positive for syphilis screening (Tp-Ab) and positive for syphile-specific antibodies;d) HIV: Known human immunodeficiency virus (HIV) positive history or HIV screening positive\n4. AVT917 (\\>1:50), anti-AGA antibody positive(\\>1:2560)\n5. C3 lower than the normal range, C5b-9 higher than the normal range, anti-AVT917 IgM positive\n6. Current or have a history of serious cardiovascular disease and surgical history\n7. Current underlying liver disease or history of liver disease, as assessed by the investigator, that may affect the safety assessment of the drug\n8. Renal disease in adult and the slope of kidney \\>5 mL\u002Fmin\u002F1.73m²\u002Fyear\n9. Subjects with poorly controlled diabetes after drug treatment (e.g., HbA1c≥8%);\n10. Acute\u002Fchronic infection or other chronic disease that the investigator determines will increase the risk of participants participating in the study\n11. Patients with a history of malignant tumor or currently suffering from any malignant tumor (except for the following tumor diseases: skin basal cell carcinoma, cervical carcinoma in situ, breast carcinoma in situ, skin squamous cell carcinoma has been controlled after treatment);\n12. Have malignancy cancer\n13. Patients with active autoimmune diseases (such as rheumatoid arthritis, systemic lupus erythematosus, multiple sclerosis, immune vasculitis, inflammatory bowel disease, etc.);\n14. known history of allergy to the components of the investigational products\n15. Patients with a history of drug use or drug abuse or alcoholism\n16. Use of systemic (intravenous or oral) immunomodulators within the past 6 months or currently\n17. Initiation of treatment with blood pressure lowering drugs that affect proteinuria levels (such as angiotensin-converting enzyme inhibitors, angiotensin-receptor blockers, or angiotensin-receptor\u002Fenkephalin inhibitors) within 4 weeks prior to screening, or changes in the therapeutic dose of these drugs within 4 weeks prior to screening;\n18. Has received, or is currently receiving, a clinical trial of another investigational drug\u002Fmedical device or treatment (other than vitamins and minerals) within 3 months prior to signing the informed consent (or within 5 half-lives of the investigational drug, whichever is longer)\n19. Previous treatment with gene therapy products\n20. Those who had received live attenuated vaccine\u002Fvaccine within 12 weeks prior to screening or planned to receive it during the study\n21. Other clinical conditions that the investigators felt needed to be ruled out","7 Years",{"count":238,"type":22},[174],"Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease",[31],"2026-02-25",{"date":300,"type":43},"2026-02-27",{"date":302,"type":43},"2024-10-16",{"date":304,"type":22},"2027-04-09",{"name":306,"class":50},"The Children's Hospital of Zhejiang University School of Medicine",2,{"id":309,"slug":310,"hasResults":12,"nctId":311,"briefTitle":312,"officialTitle":313,"acronym":314,"eligibilityCriteria":315,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":316,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":318,"conditions":319,"keywords":320,"overallStatus":155,"whyStopped":4,"lastUpdateSubmitDate":325,"lastUpdatePostDateStruct":326,"startDateStruct":328,"completionDateStruct":329,"leadSponsor":330,"locationsCount":51},"100601352","observational-study-on-long-term-use-of-pegunigalsidase-alfa-in-fabry-patients-in-a-real-world-setting-100601352","NCT07109375","Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting","Observational Prospective Cohort Study on Long-term Effective and Safe Use of Pegunigalsidase Alfa in Adult Fabry Patients Under \"Real-world\" Setting","PEGASO","Inclusion Criteria:\n\n1. Male and female adults (≥ 18 years).\n2. Patients with a clinical diagnosis of Fabry disease confirmed by α-Gal A assay and detection of mutation in α-Gal A gene.\n3. Patients either taking or planning to take pegunigalsidase alfa as treatment for Fabry disease. The treatment decision must be made independently from participation in this study.\n4. Written informed consent to participate in the study and for the processing of personal data.\n\nExclusion Criteria:\n\n1. History of hypersensitivity reaction to pegunigalsidase alfa.\n2. Presence of any medical, emotional, behavioural, or psychological condition that, in the judgment of the physician, could interfere with the ability to participate in the study.\n3. Female subjects who are pregnant or planning to become pregnant during the study.",{"count":317,"type":22},75,"PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world setting.",[31],[321,149,322,323,324],"Pegunigalsidase alfa","Real-world","Alpha-galactosidase A","Lysosomal storage disorders","2026-02-23",{"date":327,"type":43},"2026-02-24",{"date":259,"type":22},{"date":79,"type":22},{"name":331,"class":82},"Chiesi Italia",{"id":333,"slug":334,"hasResults":12,"nctId":335,"briefTitle":336,"officialTitle":336,"acronym":337,"eligibilityCriteria":338,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":339,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":341,"conditions":342,"keywords":350,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":325,"lastUpdatePostDateStruct":356,"startDateStruct":357,"completionDateStruct":359,"leadSponsor":361,"locationsCount":363},"100587991","rare-but-not-alone-a-large-italian-network-to-empower-the-impervious-diagnostic-pathway-of-rare-cerebrovascular-diseases-aligned-100587991","NCT06935578","RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)","ALIGNED","Inclusion Criteria:\n\n* patients with a clinical, genetic and\u002For neuroradiological diagnosis of rCVD (CADASIL, Fabry's disease, COL4A1, Sneddon's syndrome or Moyamoya arteriopathy), who have had at least one brain MRI study;\n\nExclusion Criteria:\n\n* na",{"count":340,"type":22},500,"Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strokes. However, rCVDs are often misdiagnosed since clinicians are not able to recognize them. Although rare, the identification of these stroke causes is important to establish appropriate management measures, including genetic counselling, and, if available, therapy. The lack of data on phenotype and clinical course of rCVDs, given the paucity of published series, makes the diagnosis and the development of therapies challenging. Furthermore, the molecular characterization of rCVDs is still lacking, despite progresses achieved in common stroke by applying high throughput approaches as multi-omics. Since the diagnosis and care of rCVDs require adequate expertise and instrumental tools, clinical and research activities are usually reserved to few specialized centers, mostly located in the North of Italy, leading patients to expensive trips for consultations. Therefore, the creation of a clinical and research network aimed at improving the diagnostic pathways of rCVDs is highly needed to improve the number of patients with rCVDs to better define the clinical phenotype and to transfer the knowledge on rCVDs in other centers overall Italy filling the geographical gap affecting Southern Italy.",[343,344,345,346,347,348,31,349],"CADASIL","CADASIL (Diagnosis)","Moya Moya Disease","Moyamoya","Moyamoya Syndrome","Sneddon Syndrome","COL4A1\\2",[351,352,343,353,31,348,354,355],"Rare Cerebrovascular Diseases","italian network","COL4A1 syndrome","Moyamoya arteriopathy","COL4A1\u002F2",{"date":327,"type":43},{"date":358,"type":43},"2023-05-01",{"date":360,"type":22},"2026-05-19",{"name":362,"class":50},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta",17,{"id":365,"slug":366,"hasResults":12,"nctId":367,"briefTitle":368,"officialTitle":369,"acronym":4,"eligibilityCriteria":370,"healthyVolunteers":12,"sex":371,"minAge":19,"maxAge":4,"enrollmentInfo":372,"targetDuration":4,"studyType":63,"phases":374,"briefSummary":375,"conditions":376,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":377,"startDateStruct":379,"completionDateStruct":381,"leadSponsor":383,"locationsCount":51},"100396296","long-duration-holter-ecg-in-fabry-disease-100396296","NCT04440254","Long Duration Holter ECG in Fabry Disease","Natural History of Cardiac Rhythm and Conduction Disorders in Patients With Fabry Disease Evaluated by Long-Term Implantable Holter ECG","Inclusion Criteria:\n\n* Male patient\n* Age greater than or equal to 18 years on the day of inclusion\n* Presence of a morbid mutation for MF\n* Signature of the informed consent form\n* Absence of significant valve disease, verified on medical file (absence stenosis or regurgitation \\\u003C2+ in color Doppler on a scale 1 to 4+ by extension of the jet)\n* No history of known or documented myocardial infarction nor CAD\n* No pacemaker or ICD\n* no history of AF, NSVT, high-degree AV block\n* Correct echogenicity\n* No treatment by corticosteroid or immunosuppressive drugs\n* creatinine clearance \\>\u002F= 30 Ml\u002Fmn\n* LVEF ≥ 50% by ultrasound and \u002F or MRI\n* No contraindication to MRI (or claustrophobia) and gadolinium injection\n* Affiliation to the French social security insurance","MALE",{"count":373,"type":22},40,[174],"The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease. The secondary objectives are to analyze the correlations of these anomalies with changes in cardiac MRI and echocardiographic parameters as biological parameters and overall severity of the disease assessed by MSSI.",[31],{"date":378,"type":43},"2026-02-18",{"date":380,"type":43},"2021-05-05",{"date":382,"type":22},"2029-04-30",{"name":384,"class":163},"Institut National de la Santé Et de la Recherche Médicale, France",{"id":386,"slug":387,"hasResults":12,"nctId":388,"briefTitle":389,"officialTitle":390,"acronym":4,"eligibilityCriteria":391,"healthyVolunteers":392,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":393,"targetDuration":395,"studyType":23,"phases":4,"briefSummary":396,"conditions":397,"keywords":404,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":411,"lastUpdatePostDateStruct":412,"startDateStruct":414,"completionDateStruct":416,"leadSponsor":418,"locationsCount":51},"100618805","precision-diagnosis-and-risk-stratification-of-rare-cardiomyopathies-based-on-novel-cardiac-magnetic-resonance-techniques-100618805","NCT07336394","Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques","Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study","Inclusion Criteria:\n\n* Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.\n\nExclusion Criteria:\n\n* Severe arrhythmia;\n* Severe primary cardiac valvular disease;\n* Refuse to participate in the study.",true,{"count":394,"type":22},1000,"10 Years","What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage.\n\nThe investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation.\n\nWhat is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner.\n\nPersonalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants.\n\nWhat does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.",[398,31,399,400,401,402,403],"Danon Disease","Cardiac Amyloidosis","Noonan Syndrome","Cardiac Sarcoidosis","Glycogen Storage Disease","Idiopathic Cardiomyopathy",[405,406,407,408,409,410],"cardiovascular magnetic resonance imaging","early diagnosis","prognosis","rare cardiomyopathies","nuclear medicine imaging","echocardiography","2026-01-19",{"date":413,"type":43},"2026-01-21",{"date":415,"type":43},"2010-01-01",{"date":417,"type":22},"2030-12-30",{"name":419,"class":50},"Chinese Academy of Medical Sciences, Fuwai Hospital",{"id":421,"slug":422,"hasResults":12,"nctId":423,"briefTitle":424,"officialTitle":425,"acronym":426,"eligibilityCriteria":427,"healthyVolunteers":392,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":428,"targetDuration":59,"studyType":23,"phases":4,"briefSummary":429,"conditions":430,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":438,"lastUpdatePostDateStruct":439,"startDateStruct":441,"completionDateStruct":443,"leadSponsor":445,"locationsCount":51},"100475646","taiwan-associated-genetic-and-nongenetic-small-vessel-disease-100475646","NCT05473637","Taiwan Associated Genetic and Nongenetic Small Vessel Disease","Deciphering, Construction and Validation of Magnetic Resonance Imaging Maps, Clinical Features and Outcomes in Genetic and Nongenetic Cerebral Small Vessel Diseases","TAG-SVD","Inclusion Criteria:\n\nParticipants must have at least one of the following symptoms\u002Fsigns or history\n\n* stroke (especially small vessel occlusion type of ischaemic stroke, spontaneous ICH or young stroke)\n* cognitive impairment or dementia\n* gait disturbance\n* parkinsonism (especially vascular parkinsonism features)\n* headache (especially migraine)\n* positive family history of hereditary CSVD\n* MRI evidence of CSVD (MRI may be done for other reasons), including mild to moderate white matter hyper intensity, any lacune, or any cerebral microbleed\n\nExclusion Criteria:\n\n* MRI evidence of CSVD due to other inflammatory, malignancy, or structural lesions\n* patients or family members not willing to sign informed consent",{"count":340,"type":22},"The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.",[431,432,433,434,31,435,436,437],"Cerebral Small Vessel Diseases","Cadasil","HTRA1-Related Autosomal Dominant Cerebral Angiopathy","COL4A1-Related Brain Small Vessel Disease With Haemorrhage","Magnetic Resonance Imaging","Next-generation Sequencing","Stroke","2026-01-15",{"date":440,"type":43},"2026-01-20",{"date":442,"type":43},"2019-01-01",{"date":444,"type":22},"2028-12-31",{"name":446,"class":50},"National Taiwan University Hospital",{"id":448,"slug":449,"hasResults":12,"nctId":450,"briefTitle":451,"officialTitle":451,"acronym":452,"eligibilityCriteria":453,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":454,"targetDuration":123,"studyType":23,"phases":4,"briefSummary":456,"conditions":457,"keywords":458,"overallStatus":155,"whyStopped":4,"lastUpdateSubmitDate":460,"lastUpdatePostDateStruct":461,"startDateStruct":462,"completionDateStruct":464,"leadSponsor":466,"locationsCount":4},"100619939","novel-diagnostic-and-prognostic-predictors-in-fabry-cardiomyopathy-proof-of-concept-in-a-rare-disease-100619939","NCT07351136","Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease","FABRyCar","Inclusion Criteria:\n\n* Adult patients, over 18 years of age;\n* Diagnosis of Fabry disease\n\nExclusion Criteria:\n\n* Refusal to participate in the study",{"count":455,"type":22},20,"In this work, we address the understanding of the signaling pathways involved in cardiac remodeling in human SCD through molecular imaging analysis with a fibrosis marker. Furthermore, we emphasize characterizing the cardiac remodeling process by analyzing proteomic data from SCD myocardial biopsies and by analyzing the profile of microRNAs associated with hypertrophic cardiomyopathy and their diagnostic and prognostic value.",[31],[31,459],"FAPI","2026-01-09",{"date":440,"type":43},{"date":463,"type":22},"2026-01-01",{"date":465,"type":22},"2026-03-31",{"name":467,"class":50},"Núcleo de Apoio à Investigação Clínica - FMUP",{"id":469,"slug":470,"hasResults":12,"nctId":471,"briefTitle":472,"officialTitle":473,"acronym":4,"eligibilityCriteria":474,"healthyVolunteers":12,"sex":18,"minAge":293,"maxAge":4,"enrollmentInfo":475,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":476,"conditions":477,"keywords":478,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":480,"lastUpdatePostDateStruct":481,"startDateStruct":483,"completionDateStruct":485,"leadSponsor":487,"locationsCount":489},"100607352","a-study-of-agalsidase-alfa-enyzme-replacement-therapy-in-chinese-children-and-adults-with-fabry-disease-100607352","NCT07187440","A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease","A Prospective, Multi-center, Observational Study to Evaluate the Clinical Outcomes of Agalsidase Alfa Enzyme Replacement Therapy Among Chinese Patients With Fabry Disease in Real-world Clinical Practice","Inclusion Criteria\n\nParticipants who meet all of the following criteria are eligible for this study:\n\n* Participant is greater than or equal to (\\>= 7) years old.\n* Participant with confirmed diagnosis of Fabry disease (by investigator).\n* Participant never received or has received ERT (agalsidase alfa or agalsidase beta) within 12 weeks at most prior to enrolment.\n* Participant who will receive ERT with agalsidase alfa in routine clinical practice settings.\n* For \\>= 18 years old, participant should sign the informed consent form (ICF); for 8-17 years old, participant and his (her) parents\u002F legally authorized representative (LAR) should both sign the ICF; for \\\u003C 8 years old, participant will give assent and his (her) parents\u002Flegally authorized representative should sign the ICF accordingly.\n\nExclusion Criteria\n\n* Participant will be excluded if they have documented New York Heart Association (NYHA) functional Class IV heart failure symptoms (Implantable cardioverter-defibrillator \\[ICD\\] implanted excluded), third-degree atrioventricular block (ICD implanted excluded), acute myocardial infarction within the last 3 months and severe stroke (NIH Stroke Scale \\[NIHSS\\] \\>= to 21).\n* Participant has enrolled in Fabry disease interventional clinical trial currently.\n* Other situations that the investigator considers not suitable for participation in this study.",{"count":247,"type":22},"Fabry Disease is a rare blood disorder that some people are born with. People with Fabry disease have low levels of an enzyme called alpha-galactosidase A. This enzyme helps to cut down fat-like substances. Without alpha-galactosidase A, large forms of these substances build up and clot in blood vessels. Over time, this can affect vital organs (especially the heart, kidneys, and brain) causing serious health problems with advancing age. Agalsidase alfa (Replagal®) is a human enzyme made in the laboratory and may provide higher levels of alpha-galactosidase A. Replagal® works the same way as natural alpha-galactosidase A does.\n\nThe main aim of this study is to learn more about the treatment with Replagal® in Chinese children and adults with Fabry disease. The study aims to assess the heart and kidney function in people with Fabry disease who are routinely treated with Replagal®. Other aims are to learn about the change in heart and kidney function, impact on quality of life, how the treatment with Replagal® works for people with Fabry Disease, and how safe the treatment with Replagal® is in routine real-world settings.\n\nParticipants will receive with Replagal® per the routine treatment settings in China. No study-specific visits to the clinical are scheduled.",[31],[479],"Drug Therapy","2025-12-29",{"date":482,"type":43},"2026-01-02",{"date":484,"type":43},"2025-11-01",{"date":486,"type":22},"2028-11-30",{"name":488,"class":82},"Takeda",18,{"id":491,"slug":492,"hasResults":12,"nctId":493,"briefTitle":494,"officialTitle":494,"acronym":495,"eligibilityCriteria":496,"healthyVolunteers":12,"sex":18,"minAge":497,"maxAge":4,"enrollmentInfo":498,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":499,"conditions":500,"keywords":504,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":506,"lastUpdatePostDateStruct":507,"startDateStruct":509,"completionDateStruct":511,"leadSponsor":513,"locationsCount":51},"100614266","study-of-the-quality-of-life-of-patients-with-fabry-disease-aged-65-and-over-with-and-without-specific-treatment-100614266","NCT07277361","Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment","FABRY65","Inclusion Criteria:\n\n* Men and women aged 65 and over with a diagnosis of Fabry disease with, for men, a proven alpha-galactosidase A deficiency or an identified pathogenic GLA genetic variant, and for women, an identified pathogenic GLA variant.\n* Minimum work-up available: ECG, 24h holterECG, cardiac ultrasound, creatinemia, proteinuria and\u002For microalbuminuria.\n* Have received written and oral information about the protocol and have not expressed any opposition to participating in the study.\n* Affiliated to a social security scheme or entitled to benefits (excluding AME).\n\nExclusion Criteria:\n\n* Inability to understand the information provided,\n* Under guardianship, curatorship or safeguard of justice,\n* Under restraint or deprived of liberty by judicial or administrative decision.","65 Years",{"count":21,"type":22},"Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately impacting life expectancy. People with this disease are increasingly being diagnosed later in life, around the age of 65, as the condition progresses slowly with irreversible organ damage. The effectiveness of treatments for Fabry disease remains controversial, but early initiation is recommended for long-term benefits. Despite the high cost and inconvenience of treatments, there is limited research on their efficacy in older people or on the quality of life for those aged 65 and over with Fabry disease. This study aims to assess the quality of life in this age group both with and without treatment over a period of 5 years to determine the benefits of treatment beyond the age of 65.",[31,501,502,503],"Aged 65 Years or Older","Alpha Galactosidase A Deficiency","Galactosidase A Gene Mutation",[149,505],"Alpha galactosidase A deficiency","2025-12-09",{"date":508,"type":43},"2025-12-11",{"date":510,"type":43},"2024-10-08",{"date":512,"type":22},"2031-10-14",{"name":514,"class":50},"Wladimir MAUHIN, Dr",{"id":516,"slug":517,"hasResults":12,"nctId":518,"briefTitle":519,"officialTitle":520,"acronym":4,"eligibilityCriteria":521,"healthyVolunteers":12,"sex":18,"minAge":522,"maxAge":523,"enrollmentInfo":524,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":525,"conditions":526,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":527,"lastUpdatePostDateStruct":528,"startDateStruct":530,"completionDateStruct":532,"leadSponsor":534,"locationsCount":51},"100611063","effect-of-agalsidase-alfa-on-cardiac-inflammation-in-patients-with-fabry-disease-a-18f-fdg-pet-cmr-study-100611063","NCT07235709","Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study","Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study (ESCAPE-FABRY Trial)","Inclusion Criteria:\n\n* Patients aged 15-75 years with Fabry disease confirmed by enzyme assay and gene test\n* Patients have not undergone ERT for more than 12 months or patients have not used Agalsidase Alfa in the last 12 months.\n* Patients who have cardiac involvement of Fabry disease (end diastolic maximal wall thickness ≥ 12mm on echocardiography or CMR, decreased native T1 value on CMR, unexplained distinct diastolic dysfunction, unexplained decreased global longitudinal strain on 2D strain echocardiography, or biopsy-proven cardiac involvement)\n* Patients provided written informed consent to participate in this study\n* The patient, or patient's legally authorized representative(s), if applicable, understands the nature, scope, and possible consequences of the study and has provided written informed consent that has been approved by the Institutional Review Board\u002FIndependent Ethics Committee\n* The patient must be sufficiently cooperative to participate in this clinical study as judged by the investigator.\n\nExclusion Criteria:\n\n* Contraindication for enzyme replacement treatment with Agalsidase Alfa\n* Patients have previously been treated with Agalsidase Alfa for \\> 12 months\n* Patients unable to undergo PET-CMR due to any condition\n* Patients who are pregnant\n* Patients who have active malignancy\n* Subject who the investigator deems inappropriate to participate in this study","15 Years","75 Years",{"count":7,"type":22},"This is a prospective observational study. All patients will initiate and maintain treatment with agalsidase alfa during the study period. All patients will receive a full standard of care concomitant medication for the treatment of their cardiac condition. Twenty-five patients with genetically confirmed Anderson-Fabry disease will undergo PET-CMR at baseline and after 12 months of treatment with Agalsidase Alfa for follow-up.",[31],"2025-11-28",{"date":529,"type":43},"2025-12-01",{"date":531,"type":43},"2025-11-12",{"date":533,"type":22},"2029-11",{"name":535,"class":50},"Yonsei University",{"id":537,"slug":538,"hasResults":12,"nctId":539,"briefTitle":540,"officialTitle":540,"acronym":541,"eligibilityCriteria":542,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":543,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":544,"conditions":545,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":546,"lastUpdatePostDateStruct":547,"startDateStruct":549,"completionDateStruct":551,"leadSponsor":552,"locationsCount":202},"100567067","a-multi-country-observational-study-of-safety-and-effectiveness-of-elfabrio-in-fabry-patients-100567067","NCT06663358","A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients","MODERN","Inclusion Criteria:\n\n* Male or female aged \\> 18 years of age at the time of consent.\n* Genetically confirmed diagnosis of Fabry disease.\n* Either taking or planning to take pegunigalsidase alfa as treatment for Fabry disease.\n* No contraindications for cardiac magnetic resonance imaging (cMRI)\n* Informed consent form (ICF) signed and dated indicating the individual has been informed of and agreed to all pertinent aspects of the study and is willing to comply with all study requirements, including completion of electronic patient reported outcomes (ePROs).\n* Cardiac Cohort:\n* Evidence of Fabry disease (FD)-related heart disease including one or more of the following:\n* Left ventricular hypertrophy (LVH) measured by left ventricular mass index (LVMI) (g\u002Fm2) elevation above age\u002Fsex specific reference ranges.\n* Posterior septum wall thickness (e.g., \\>=13mm) not explained by other factors (e.g., hypertension)\n* Low native T1 mapping on cMRI.\n* Typical Fabry-like scar on cMRI\n* Participants can receive cardiac magnetic resonance imaging (cMRI) with gadolinium enhancement as part of their SoC.\n* Estimated glomerular filtration rate (eGFR) \\>45 mL\u002Fmin\u002F1.73 m2, assessed within the prior 6 months.\n* Naïve Cohort:\n* Most recent eGFR\\>45 mL\u002Fmin\u002F1.73 m2, assessed within prior 6 months.\n* Male participants should have abnormal elevation in plasma lysoGb3 as assessed within 6 months prior to enrolment.\n* Long-Term Cohort:\n* Participants previously enrolled in the open label study CLI-06657AA1-04 (Previously PB-102-F60) (using pegunigalsidase alfa at a dose of 1mg\u002Fkg every 2 weeks) who have initiated or plan to initiate commercial pegunigalsidase alfa (Elfabrio®).\n\nExclusion Criteria:\n\n* Contraindication to magnetic resonance imaging (MRI) including known history of hypersensitivity to gadolinium contrast agent that is not managed by the use of premedication.\n* Pregnant at the time of enrolment.\n* Presence of any medical, emotional, behavioural, or psychological condition that, in the judgment of the physician, could interfere with the ability to participate in the study.\n* Active participation in any interventional study for Fabry disease\n* Treatment regimen at the time of enrolment in the study is different from the approved 1mg\u002Fkg every two weeks (note if regimen subsequently changes during the prospective part of the study, the participants can remain in the study)\n* Prior participation in a pegunigalsidase alfa trial using a dose of 2 mg\u002Fkg administered every 4 weeks.\n* Cardiac Cohort:\n* History of acute myocardial infarction or congestive heart failure with reduced left ventricular (LV) ejection fraction of less than 35%.\n* Cerebral vascular accident (CVA) in the prior 6 months.\n* Chronic liver cirrhosis.\n* FD-unrelated heart disease (e.g., scarring due to myocardial infarction, symptomatic occlusive coronary artery disease, moderate valvular heart disease not thought to be Fabry related).\n* The participant is or has been treated with any investigational drug for Fabry disease within 6 months of study start or investigational gene therapy for Fabry disease at any time point in the past.\n* Severe cardiac fibrosis defined as more than 3 segments that each have \\>50% fibrosis upon late gadolinium enhancement cMRI at any prior cMRI.\n* Naïve Cohort:\n* Prior exposure to a FD therapy (Replagal®, Fabrazyme®, and Galafold®) at any time point.\n* Severe cardiac fibrosis defined as more than 3 segments that each have \\>50% fibrosis upon late gadolinium enhancement cMRI on any prior cMRI",{"count":21,"type":22},"A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.",[31],"2025-11-13",{"date":548,"type":43},"2025-11-14",{"date":550,"type":43},"2024-11-06",{"date":533,"type":22},{"name":215,"class":82},{"id":554,"slug":555,"hasResults":12,"nctId":556,"briefTitle":557,"officialTitle":558,"acronym":4,"eligibilityCriteria":559,"healthyVolunteers":12,"sex":371,"minAge":19,"maxAge":560,"enrollmentInfo":561,"targetDuration":4,"studyType":63,"phases":562,"briefSummary":564,"conditions":565,"keywords":566,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":571,"lastUpdatePostDateStruct":572,"startDateStruct":574,"completionDateStruct":576,"leadSponsor":578,"locationsCount":62},"100536860","phase-1-safety-pkpd-and-exploratory-efficacy-study-of-amt-191-in-classic-fabry-disease-100536860","NCT06270316","Safety, PK\u002FPD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease","A Phase 1\u002F2, Single Dose, Dose Ranging Study of Intravenous AAV5-GLA (AMT-191) in Adult Males With Classic Fabry Disease","Key Inclusion Criteria:\n\n* Male of age ≥ 18 years and ≤50 years\n* Confirmed clinical diagnosis of classic Fabry disease (FD) defined as:\n\n  1. Absent or minimal αGAL A enzyme activity \\\u003C 1% of mean normal measured in plasma regardless of variant status; OR\n  2. α-galactosidase A (GLA) pathogenic or likely pathogenic variant associated with classic FD phenotype identified on molecular genetic testing with plasma αGLA A enzyme activity below lower bound of the reference range (as measured at trough enzyme replacement therapy \\[ERT\\] levels).\n* eGFR ≥ 40 mL\u002Fmin\u002F1.73 m2\n* Suboptimal response after at least 12 months of enzyme replacement therapy (ERT) treatment. Suboptimal response is defined as plasma lyso-Gb3 ≥ 2.3 nanograms per milliliter (ng\u002FmL) at Screening and one or both of the following:\n* Persistent moderate or severe neuropathic pain (intermittent or continuous) over a period of at least 3 months prior to consent\n* Presence of gastrointestinal symptoms (abdominal cramping, constipation, or diarrhea), reported by the Participant as moderate or severe and that are either persistent or occurring two or more times over the 12 weeks prior to consent\n* Weight ≤ 120 kilograms (kg)\n\nKey Exclusion Criteria:\n\n* Any allergic hypersensitivity reaction to ERT or infusion reaction in the 12 months prior to consent that was of severity grade 3 or above based on Common Terminology Criteria for Adverse Events (CTCAE v5.0) and required emergency intervention for hypertension\u002Fhypotension to stabilize blood pressure or hypoxia OR any other life-threatening complication.\n* Proteinuria, with random urine protein\u002Fcreatinine ratio (rUPCR) ≥1 mg\u002Fmg at Screening\n* Current use of chaperone therapy such as migalastat (Galafold®)\n* Malignancy within 5 years of Screening, except for basal or squamous cell carcinoma of the skin\n* Presence of chronic, active, or latent infection with hepatitis B or C, human immunodeficiency virus (HIV), or tuberculosis (TB) as assessed at the screening visit\n* Active or ongoing infection or any other significant concurrent, uncontrolled medical condition including, but not limited to, renal, hepatic, cardiovascular, hematological, GI, endocrine (such as diabetes mellitus with poor glycemic control), pulmonary, neurological, cerebral, or psychiatric disease, alcoholism, drug dependency, or any other psychological disorder that could, in the opinion of the Investigator, risk the safety of the Participant, or interfere with adherence to the protocol procedures or interpretation of results\n* Evidence of any liver disease, including hepatitis, fibrosis, cirrhosis of the liver, neoplastic lesion, or any known medical condition that could impact the intended transduction of the vector and\u002For expression and activity of the protein\n* History of kidney transplantation or currently on hemodialysis or peritoneal dialysis\n* Uncontrolled hypertension, defined as systolic blood pressure \\>140 millimeters of mercury (mmHg) (inclusive) and\u002For diastolic blood pressure outside the range of 60 to 85 mmHg (inclusive) at Screening, confirmed on at least 2 repeated measurements\n* Patients taking blood pressure medication to control blood pressure or proteinuria (eg, angiotensin-converting enzyme \\[ACE\\] inhibitors and angiotensin II receptor blockers \\[ARBs\\]) and have been titrated to a stable dose for at least 3 months prior to Screening are allowed in the study.\n* Glycated hemoglobin (HbA1c) at Screening ≥7%\n* Contraindication to systemic corticosteroid therapy or immunosuppressive therapy\n* Chronic steroid use, defined as ≥ 3 months of oral corticosteroid use within the 12 months prior to Screening\n* Screening laboratory values for renal and liver function that meet or exceed any of the following:\n\n  1. Alanine transaminase (ALT) \\> 2 x upper limit of normal for the testing laboratory (ULN)\n  2. Aspartate aminotransferase (AST) \\> 2 x ULN\n  3. Total Bilirubin \\> 2 x ULN (except if this is caused by Gilbert disease)\n  4. Alkaline phosphatase (ALP) \\> 2 x ULN\n  5. Creatinine \\> 2 x ULN\n* Screening laboratory values for hematologic and coagulation function that meet any of the following:\n\n  1. Hemoglobin \\\u003C lower limit of normal (LLN) (as per reference laboratory ranges)\n  2. Platelet count \\\u003C 150 x1000\u002Fμl\n  3. International normalized ratio (INR) \\>1.1\n  4. Soluble terminal complement complex (sC5b-9)\\>ULN\n* Significant anatomical abnormalities on renal ultrasound such as the presence of only 1 kidney, significant differences in kidney sizes between the right and left kidneys \\>1.5 centimeters (about 0.59 inch), or presence of kidney cysts","50 Years",{"count":238,"type":22},[563,229],"PHASE1","The main goals of this clinical study are to characterize safety and PK\u002FPD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.",[31],[567,568,569,570],"GLA","gene therapy","ERT","FD","2025-10-21",{"date":573,"type":43},"2025-10-23",{"date":575,"type":43},"2024-06-05",{"date":577,"type":22},"2031-04-30",{"name":579,"class":82},"UniQure Biopharma B.V.",{"id":581,"slug":582,"hasResults":12,"nctId":583,"briefTitle":584,"officialTitle":585,"acronym":4,"eligibilityCriteria":586,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":587,"targetDuration":4,"studyType":63,"phases":588,"briefSummary":590,"conditions":591,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":592,"lastUpdatePostDateStruct":593,"startDateStruct":595,"completionDateStruct":597,"leadSponsor":599,"locationsCount":601},"100444472","phase-4-a-study-of-replagal-in-children-and-adults-with-fabry-disease-in-india-100444472","NCT05067868","A Study of Replagal in Children and Adults With Fabry Disease in India","A Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Replagal (Agalsidase Alfa [r-DNA Origin]) in Indian Children and Adults With Fabry Disease","Inclusion Criteria:\n\n1. Male and female Replagal naïve participants (and who are not part of any other program that allows participant to get access to free enzyme replacement therapy \\[ERT\\] at the time of study enrollment and during the study period) of any age with confirmed diagnosis of Fabry disease.\n2. Participants who have documented confirmed diagnosis of Fabry disease based on proof of gene mutation: α-galactosidase A gene compatible with Fabry disease and\u002For a deficiency of α-galactosidase A (less than \\[\\\u003C\\] 4.0 nanomole per milliliter per hour (nmol\u002FmL\u002Fhour) in plasma or serum or \\\u003C8 percent (%) of average mean normal in leukocytes and sequencing of GLA gene for females).\n3. Participant must have any clinical manifestations of Fabry disease based on investigator's discretion.\n4. Participant\u002Flegal authorized representative (LAR)\u002Fguardian is able to understand and willing to give written informed consent before performing any study specific procedures and willing to adhere to protocol requirements.\n5. Female participants of childbearing potential (example, nonsterilised, premenopausal female participants) must have a documented negative pregnancy test prior to administration of the first dose of Replagal in this study. In addition, all female participants of childbearing potential must use a two medically accepted forms of contraception throughout the study, that is, either a barrier method or hormonal contraceptive with norethindrone and ethinyl estradiol or similar active components.\n6. Male participant who is nonsterilised and sexually active with a female partner of childbearing potential agrees to use barrier method of contraception (example, condom with or without spermicide) from signing of informed consent throughout the duration of the study.\n\nNote: Female participants not of childbearing potential defined as those who have been surgically sterilized (hysterectomy, bilateral oophorectomy, or tubal ligation) or who are postmenopausal (example, defined as at least 1 year since last regular menses with an appropriate clinical profile \\[that is, age appropriate, history of vasomotor symptoms\\]).\n\nExclusion Criteria:\n\n1. Participants who have received Replagal.\n2. Participants with poorly controlled hypertension as per investigator's discretion.\n3. Participants with chronic kidney disease (CKD) with estimated Glomerular Filtration rate less than 15 milliliter per minute (mL\u002Fmin) \u002F1.73 meter square (m\\^2) and who had\u002Fwill have kidney transplantation or are currently on dialysis.\n4. Participants with any serious hepatic disorder who had abnormal hepatic function test values at screening (when either alanine aminotransferase \\[ALT\\] or aspartate aminotransferase \\[AST\\] level exceeded the value three times the upper limit of normal \\[ULN\\] and total bilirubin 1.5 times as high as the ULN); and deemed as clinically significant by investigator for hematology and biochemistry. These abnormal laboratory values could be discussed with medical monitor before excluding the participant.\n5. If female, the participant is pregnant or lactating or intending to become pregnant before participating in this study, during the study; or intending to donate ova during such time period.\n6. Participant\u002FLAR\u002Fguardian is unable to understand the nature, scope, and possible consequences of the study.\n7. Participant is unable to comply with the protocol, example, uncooperative with protocol schedule, refusal to agree to all of the study procedures, inability to return for safety evaluations, or is otherwise unlikely to complete the study, as determined by the investigator.\n8. If male, the participant intends to donate sperm during the course of this study.\n9. Participants who had participated in any other investigational drug study within the past 4 weeks prior to screening.\n10. Any participant deemed as unfit for this trial, as per investigator's clinical judgment.",{"count":216,"type":22},[589],"PHASE4","The main aim of this study is to learn more about the safety profile of Replagal.\n\nParticipants will receive Replagal every 2 weeks at the clinic for about 1 year.",[31],"2025-09-15",{"date":594,"type":43},"2025-09-19",{"date":596,"type":43},"2022-11-01",{"date":598,"type":22},"2026-11-30",{"name":600,"class":82},"Shire",3,{"id":603,"slug":604,"hasResults":12,"nctId":605,"briefTitle":606,"officialTitle":607,"acronym":608,"eligibilityCriteria":609,"healthyVolunteers":12,"sex":18,"minAge":610,"maxAge":523,"enrollmentInfo":611,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":613,"conditions":614,"keywords":615,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":620,"lastUpdatePostDateStruct":621,"startDateStruct":623,"completionDateStruct":625,"leadSponsor":627,"locationsCount":307},"100177240","natural-history-and-structural-functional-relationships-in-fabry-renal-disease-treatment-outcomeschangesin-fabry-renal-disease-study-100177240","NCT01581424","Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study","Natural History and Structural Functional Relationships in Fabry Renal Disease Natural History, Structural Functional Relationships and Determinants of Renal Structural Responses (Changes) With Enzyme Replacement Therapy in Fabry Disease","LDN6702","Inclusion Criteria:\n\n* Patients diagnosed with Fabry disease who have\u002Fhave not received enzyme replacement therapy where a clinical decision has been made to obtain a kidney biopsy, a GFR, and urinary albumin studies or where patients have previously completed clinical trials which included measures of renal function and renal biopsies.\n\nExclusion Criteria:\n\n* Patients with serum creatinine more than 2.5 mg\u002FdL or known to have a renal disease other than Fabry.","1 Year",{"count":612,"type":22},50,"The investigators will perform a study with two major components. The first is a natural history study of untreated Fabry patients. This study component will detail kidney microscopic structural changes in Fabry patients before starting enzyme replacement therapy and will correlate these changes with kidney function, including glomerular filtration rate and urinary albumin excretion rate. The investigators will perform studies on samples obtained at baseline, or before enzyme replacement therapy is initiated. The goal of our study is to find kidney microscopic changes in the biopsies that are associated with kidney disfunction. Our hypotheses for this study are:\n\n1. Much of the natural history of Fabry renal structural changes will occur without detectable renal functional alterations.\n2. Structural changes associated with the initial onset of proteinuria and those associated with the subsequent progressive loss of filtration function will differ and will be best described by non-linear models.\n3. There will be sufficient precision of Fabry renal structural-functional relationships to support renal structure as an acceptable clinical trial surrogate endpoint for later renal functional deterioration.\n\nThe second component examines the effects of age and gender at start of enzyme replacement therapy (ERT), as well as dosage levels of ERT on the renal cellular clearance of GL3 from Fabry patients by comparing baseline to follow-up kidney biopsies performed 5, 11, and 60 months later, with all comparisons matched for ERT treatment duration. Our hypotheses for this component of the study are as follows:\n\n1. Enzyme Replacement Therapy(ERT) instituted at younger ages is more effective in reducing podocytes(PC),distal tubular cells(DTC),and arterial smooth muscle cells (ASMC)GL-3 than in older Fabry patients.\n2. Earlier institution of ERT will stabilize PC numbers while later ERT institution, especially in proteinuric adults, may not prevent progressive decline in PC numbers and associated glomerular sclerosis, tubulointerstitial injury, and GFR loss.\n3. Whereas lower ERT dose may effectively clear GL-3 from endothelial and mesangial cells, it will be less effective in clearing GL-3 from PC and also from DTC and ASMC.\n4. Affected cells will be cleared of GL-3 equivalently in females and males.",[31],[149,616,617,618,619],"kidney function","kidney structure morphometry","Fabry kidney disease","Podocytes","2025-08-21",{"date":622,"type":43},"2025-08-22",{"date":624,"type":4},"2010-10",{"date":626,"type":22},"2030-07-31",{"name":628,"class":50},"University of Minnesota",{"id":630,"slug":631,"hasResults":12,"nctId":632,"briefTitle":633,"officialTitle":633,"acronym":4,"eligibilityCriteria":634,"healthyVolunteers":12,"sex":200,"minAge":4,"maxAge":4,"enrollmentInfo":635,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":636,"conditions":637,"keywords":638,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":640,"lastUpdatePostDateStruct":641,"startDateStruct":643,"completionDateStruct":645,"leadSponsor":647,"locationsCount":51},"100381857","a-global-prospective-observational-study-of-women-with-fabry-disease-and-their-infants-during-pregnancy-and-breastfeeding-100381857","NCT04252066","A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding","Inclusion Criteria:\n\nFemale patients meeting the following criteria will be eligible for study enrollment:\n\n1. Patients with Fabry disease who are pregnant and\u002For breastfeeding, whether or not they are exposed to migalastat\n2. Able and willing to provide informed consent or assent, if applicable.\n3. Able and willing to provide HCP contact information.\n\nExclusion Criteria:\n\nNone",{"count":455,"type":22},"This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and\u002For breastfeeding. The study will evaluate outcomes of pregnancy and\u002For breastfeeding in women and infants exposed to migalastat.",[31],[69,31,639],"Women with Fabry Disease","2025-07-02",{"date":642,"type":43},"2025-07-08",{"date":644,"type":43},"2025-03-18",{"date":646,"type":22},"2030-02",{"name":81,"class":82}]