[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"gaucher-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:gaucher-disease":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,16,0,[8,42,53,75,103,129,149,171,203,262,314,336,358,379,413,437],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100053288","phase-1-a-clinical-trial-of-pr001-ly3884961-in-patients-with-peripheral-manifestations-of-gaucher-disease-proceed-100053288",false,"NCT05487599","A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)","An Open-label, Dose-Finding, Phase 1\u002F2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)","Inclusion Criteria:\n\n1. Age greater or equal to 18 years at the time of informed consent.\n2. Bi-allelic pathogenic GBA1 variants must be centrally confirmed.\n3. On ERT or SRT for at least 2 years and on a stable, maximum tolerated dose, for at least 3 months prior to screening.\n4. Capable of giving signed informed consent, including compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol.\n5. Females and males will be eligible for this study. Men and women of childbearing potential must use a highly effective method of contraception consistently and correctly for the duration of the study, including the long-term follow-up.\n6. Patients must agree to abstain from blood, tissue and organ donation; and must agree to abstain from tissue and organ donation for the duration of the study, including long-term follow-up.\n\nExclusion Criteria:\n\n1. Clinically significant neurological signs and symptoms and\u002For behavioral disturbances.\n2. Active and progressive bone disease expected to require surgical treatment in the next 6 months.\n3. History of total splenectomy or planned total splenectomy during the first 18 months of the study. (Partial splenectomy not exclusionary).\n4. Splenomegaly \\> 10 MN as evaluated by centrally read abdominal magnetic resonance imaging (MRI)\n5. Evidence of clinically significant liver disease, fragile liver, or history of exposure to hepatotoxins.\n6. Thrombocytopenia with platelet count \\\u003C 40 × 10\\^3 per μL.\n7. Severe hyperlipidemia (triglycerides \\> 1,000 mg\u002FdL).\n8. Current diagnosis of unstable or clinically significant cardiovascular conditions based on Investigator assessment.\n9. History of certain cancers within 5 years of Screening.\n10. Concomitant disease, condition or treatment which, in the opinion of the Investigator, would pose an unacceptable risk to the patient or interfere with the patient's ability to comply with study procedures or interfere with the conduct of the study.\n11. Women of childbearing potential, pregnant (i.e., positive serum pregnancy result at Screening and\u002For Check-in) or breastfeeding or intending to become pregnant during the course of the trial.\n12. Use of any GD-related chaperone therapy within 4 weeks prior to Screening or expected need to initiate chaperone therapy during at least the first 18 months of the study.\n13. Any type of prior gene or cell therapy.\n14. Use of systemic immunosuppressant or steroid therapy other than protocol-specified immunosuppression.\n15. Participation in another therapeutic investigational drug or device study within 3 months or 5 half-lives of the study agent, whichever is longer.\n16. Have an anti-AAV9 antibody titer of \\>1:40 as determined by central laboratory.\n17. Clinically significant abnormalities in laboratory test results at Screening.\n18. Have any contraindications for MRI, including claustrophobia or the presence of contraindicated metal (ferromagnetic)implants\u002Fcardiac pacemaker.","ALL","18 Years",{"count":19,"type":20},15,"ESTIMATED","INTERVENTIONAL",[23,24],"PHASE1","PHASE2","Study J3Z-MC-OJAE is a Phase 1\u002F2, multicenter, open-label, dose-finding study of LY3884961 evaluating the safety and tolerability in adults with peripheral manifestations of GD.\n\nUp to 3 dose levels of LY3884961 will be assessed in 3 dose-finding cohorts of 3 patients. Following this, up to 6 patients may be enrolled in an expansion cohort.\n\nFor each enrolled patient, the study will be approximately 5 years in duration, including up to a 60-day screening period. During the first 18 months after dosing, subjects will be evaluated for the effects of LY3884961 on safety, tolerability, immunogenicity, biomarkers, and efficacy. Patients will be followed for an additional 42 months to monitor safety, immunogenicity, and selected biomarker and efficacy parameters.",[27,28],"Gaucher Disease","Gaucher Disease, Type 1","RECRUITING","2026-07-10",{"date":32,"type":33},"2026-07-13","ACTUAL",{"date":35,"type":33},"2022-12-20",{"date":37,"type":20},"2032-08-30",{"name":39,"class":40},"Prevail Therapeutics","INDUSTRY",9,{"id":43,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":44,"targetDuration":4,"studyType":21,"phases":45,"briefSummary":25,"conditions":46,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":47,"lastUpdatePostDateStruct":48,"startDateStruct":50,"completionDateStruct":51,"leadSponsor":52,"locationsCount":41},"100476719",{"count":19,"type":20},[23,24],[27,28],"2026-05-19",{"date":49,"type":33},"2026-05-22",{"date":35,"type":33},{"date":37,"type":20},{"name":39,"class":40},{"id":54,"slug":55,"hasResults":11,"nctId":56,"briefTitle":57,"officialTitle":57,"acronym":4,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":59,"targetDuration":61,"studyType":62,"phases":4,"briefSummary":63,"conditions":64,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":74},"100308124","gaucher-disease-outcome-survey-gos-100308124","NCT03291223","Gaucher Disease Outcome Survey (GOS)","Inclusion Criteria:\n\n* Patients of any age or gender with confirmed diagnosis (biochemical and\u002For genetic) of Gaucher disease\n* Signed and dated written informed consent from the patient or, for patients aged \\\u003C18 years (\\\u003C16 years in the United Kingdom \\[UK\\]), their parent and\u002For legally authorized representatives (LAR), and assent of the minor where applicable. Legally authorized representatives are also applicable for cognitively impaired patients.\n\nExclusion Criteria:\n\n\\- Patients currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials)",{"count":60,"type":20},1257,"6 Months","OBSERVATIONAL","The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received. No experimental intervention is involved. Patients undergo clinical assessments and receive care as determined by the patients' treating physician.\n\nThe objectives of the registry include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice.",[27],"2026-05-11",{"date":67,"type":33},"2026-05-14",{"date":69,"type":33},"2010-12-29",{"date":71,"type":20},"2026-09-30",{"name":73,"class":40},"Shire",1,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":85,"conditions":86,"keywords":89,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":102},"100392359","world-data-on-ambroxol-for-patients-with-gd-and-gba-related-pd-100392359","NCT04388969","World Data on Ambroxol for Patients With GD and GBA Related PD","IIR REGISTRY for the Collection of Real World Data on the Safety and Efficacy of Ambroxol for Patients With Gaucher Disease or GBA Carriers With Parkinson Disease","Inclusion Criteria:\n\n* patients with Gaucher disease type 1,2 or 3(a,b,c).\n* patients with GBA-related Parkinson disease.\n\nExclusion Criteria:\n\n* None.","100 Years",{"count":84,"type":20},300,"Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately, due to its low cost, there have been no pharma-driven clinical trials to establish the use of ambroxol. Thus, data are needed on the safety and efficacy of ambroxol for patients with Gaucher disease (GD).",[27,87,88],"Parkinson Disease","GBA Gene Mutation",[90,27,91],"Ambroxol","GBA carriers with Parkinson disease","2026-04-23",{"date":94,"type":33},"2026-04-29",{"date":96,"type":33},"2020-05-06",{"date":98,"type":20},"2030-11-30",{"name":100,"class":101},"Shaare Zedek Medical Center","OTHER",3,{"id":104,"slug":105,"hasResults":11,"nctId":106,"briefTitle":107,"officialTitle":108,"acronym":4,"eligibilityCriteria":109,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":110,"targetDuration":112,"studyType":62,"phases":4,"briefSummary":113,"conditions":114,"keywords":118,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":119,"lastUpdatePostDateStruct":120,"startDateStruct":122,"completionDateStruct":124,"leadSponsor":126,"locationsCount":128},"100084590","international-collaborative-gaucher-group-icgg-gaucher-disease-registry--pregnancy-sub-registry-100084590","NCT00358943","International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry","Gaucher Disease Registry Protocol","Inclusion Criteria:\n\nICGG Gaucher Registry\n\n* All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion in the Registry. Confirmed diagnosis is defined as a documented β-glucocerebrosidase deficiency and\u002For mutation in the β-glucocerebrosidase gene.\n* For all patients, appropriate patient authorization will be obtained.\n\nGaucher Pregnancy Sub-registry:\n\n* be enrolled in the ICGG Gaucher 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:\n\n\\- No exclusion criteria for participation in the ICGG Gaucher Registry and Sub-registry.",{"count":111,"type":20},12000,"12 Months","The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher 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 objectives of the Registry are:\n\n* To enhance understanding of the variability, progression, identification, and natural history of Gaucher disease, with the ultimate goal of better guiding and assessing therapeutic intervention.\n* To assist the Gaucher medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.\n* To characterize the Gaucher disease population.\n* To evaluate the long-term effectiveness of imiglucerase and of eliglustat.\n\nGaucher Pregnancy Sub-registry: The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Gaucher disease during pregnancy, regardless of whether they receive disease-specific therapy. 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.",[27,115,116,117],"Cerebroside Lipidosis Syndrome","Glucocerebrosidase Deficiency Disease","Glucosylceramide Beta-Glucosidase Deficiency Disease",[27,116],"2026-04-13",{"date":121,"type":33},"2026-04-14",{"date":123,"type":33},"1991-04-01",{"date":125,"type":20},"2034-01-31",{"name":127,"class":40},"Genzyme, a Sanofi Company",318,{"id":130,"slug":131,"hasResults":11,"nctId":132,"briefTitle":133,"officialTitle":133,"acronym":4,"eligibilityCriteria":134,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":135,"enrollmentInfo":136,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":138,"conditions":139,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":140,"lastUpdatePostDateStruct":141,"startDateStruct":143,"completionDateStruct":145,"leadSponsor":147,"locationsCount":74},"100504074","extracellular-vesicles-as-potential-biomarkers-and-therapeutic-target-in-gaucher-disease-100504074","NCT05843552","Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease","Inclusion Criteria:\n\n* Age between 18-80yrs\n* Restricted to participants who are untreated, obligate carriers and healthy controls.\n* Participants with GD should have confirmed GD diagnosis, mutation confirmed for carriers and healthy controls confirmed to have no GBA1 mutation by gene sequencing.\n\nExclusion Criteria:\n\n* Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.\n* Exclude participants who are currently on therapy for their GD\n* Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.","80 Years",{"count":137,"type":20},30,"This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function. The primary objective of the proposed project is to decipher how extracellular vesicle (EV) biogenesis and its role in intercellular communication can be impaired as a consequence of defects in lysosomal function. Collectively these defects in EV biogenesis and function can contribute to the neuroinflammation observed in lysosomal storage diseases. Since EVs can cross the blood-brain barrier, their characterization may be valuable in identifying novel biomarkers. In the presence of a GBA1 mutation, the decrease in GCase activity will lower overall lysosome function and increase the secretion of EVs. Further, there will be differences in EV size, its cargo including lipids, RNA and proteins and their aggregates. In comparison to healthy controls, EVs isolated from patients with Gaucher disease (GD) and GBA1 carriers is hypothesized to show significant differences in terms of its characteristics and content, which can contribute to our understanding of the link between lysosomes and neurological disease.",[27],"2026-04-03",{"date":142,"type":33},"2026-04-06",{"date":144,"type":33},"2023-08-14",{"date":146,"type":20},"2026-12-31",{"name":148,"class":101},"University of Minnesota",{"id":150,"slug":151,"hasResults":11,"nctId":152,"briefTitle":153,"officialTitle":154,"acronym":4,"eligibilityCriteria":155,"healthyVolunteers":11,"sex":16,"minAge":156,"maxAge":4,"enrollmentInfo":157,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":159,"conditions":160,"keywords":161,"overallStatus":163,"whyStopped":4,"lastUpdateSubmitDate":164,"lastUpdatePostDateStruct":165,"startDateStruct":166,"completionDateStruct":167,"leadSponsor":169,"locationsCount":4},"100490715","a-survey-to-assess-participants-caregivers-and-nurses-use-and-understanding-of-educational-material-on-velaglucerase-alfa-vpriv-home-infusion-100490715","NCT05669729","A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion","A Survey Among Patients, Caregivers and Home Infusion Nurses Based in the European Union to Assess Their Awareness and Understanding of Educational Materials Supporting VPRIV® Infusion at Home","Inclusion criteria:\n\n1. Gaucher disease participants who receive VPRIV® for home infusion and their caregivers.\n2. Home infusion nurses administering VPRIV® to participants with Gaucher disease at home.\n\nExclusion criteria:\n\nPotential respondents will be excluded if they have conflicts of interest with the survey (e.g., if they are employed by regulatory bodies, or pharmaceutical industry).","2 Years",{"count":158,"type":20},60,"The main purpose of this survey is to determine participants', caregivers', and nurses' understanding and use of educational materials (EM) on VPRIV home treatment. EM includes an infusion diary and guide and an emergency plan related to VPRIV infusion given at home for Gaucher disease. The survey is conducted in European countries.\n\nData will be collected directly from participants, caregivers, and nurses in form of a questionnaire, electronic or paper.",[27],[162],"Drug Therapy","NOT_YET_RECRUITING","2026-03-30",{"date":140,"type":33},{"date":71,"type":20},{"date":168,"type":20},"2027-09-30",{"name":170,"class":40},"Takeda",{"id":172,"slug":173,"hasResults":11,"nctId":174,"briefTitle":175,"officialTitle":176,"acronym":4,"eligibilityCriteria":177,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":178,"enrollmentInfo":179,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":181,"conditions":182,"keywords":184,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":193,"lastUpdatePostDateStruct":194,"startDateStruct":196,"completionDateStruct":198,"leadSponsor":200,"locationsCount":202},"100515517","gammaga-prevalence-of-acid-sphingomyelinase-deficiency-disease-asmd-and-gaucher-disease-in-patients-with-monoclonal-gammopathies-andor-multiple-myeloma-100515517","NCT05992532","GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and\u002For Multiple Myeloma","GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and\u002For Multiple Myeloma","Inclusion Criteria:\n\n* Adult patients of both sexes.\n* Patients with splenomegaly (spleen palpable at ≥ 1cm from the costal margin) or splenectomy not related to any specific condition, or patients with thrombocytopenia (with or without splenomegaly). In cases where the patient is undergoing treatment for their underlying condition, the thrombocytopenia must have been present prior to the start of the treatment.\n* Patient who gives their consent to participate in the study.\n\nExclusion Criteria:\n\n* Splenomegaly due to portal hypertension (documented by abdominal ultrasound or other instrumental test) due to liver disease\n* Hematologic malignancy \\[documented by positive physical exam + blood smear or fine needle aspiration (FNA) or bone marrow biopsy\\]\n* Hemolytic anemia and\u002For thalassemia\n* Patients who cannot meet the requirements of the protocol due to mental and\u002For cognitive alterations, uncooperative patients, educational limitations and understanding of written language\n* Refusal of the patient to participate in the study","99 Years",{"count":180,"type":20},210,"The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different algorithms and the different studies that are carried out, these splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive, hematological origin and primary causes. Despite these studies of splenomegaly, approximately 10-15% of these patients still remain undiagnosed.\n\nSeveral studies have suggested that there is an increased frequency of MGUS (monoclonal gammopathy of undetermined significance) and\u002For multiple myeloma (MM) among Gaucher patients. Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover, patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM.\n\nThe objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where we include the extraction of a blood sample for dry drop test (DBS), where the determination of the enzymatic\u002Fgenetic activity will be carried out for Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and LisoSM.",[27,183],"Acid SphingoMyelinase Deficiency",[185,186,187,188,189,190,191,192],"Gaucher disease","Acid sphingomyelinase deficiency","GD","ASMD","DBS","Splenomegaly","monoclonal gammopathies","multiple myeloma","2026-02-09",{"date":195,"type":33},"2026-02-11",{"date":197,"type":33},"2023-05-30",{"date":199,"type":20},"2026-05",{"name":201,"class":101},"Fundación Española de Hematología y Hemoterapía",23,{"id":204,"slug":205,"hasResults":11,"nctId":206,"briefTitle":207,"officialTitle":207,"acronym":4,"eligibilityCriteria":208,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":209,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":211,"conditions":212,"keywords":239,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":255,"startDateStruct":256,"completionDateStruct":258,"leadSponsor":260,"locationsCount":74},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346","NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none",{"count":210,"type":20},1500,"The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.",[213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,27,229,230,231,232,233,234,235,236,237,238],"MLD","Krabbe Disease","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","Tay-Sachs Disease","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Sandhoff Disease","Niemann-Pick Diseases","MPS IV","GAN","GM1 Gangliosidoses","Morquio Disease","S-Adenosylhomocysteine Hydrolase Deficiency","Batten Disease","Pelizaeus-Merzbacher Disease","Leukodystrophy","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[240,241,242,243,244,245,246,247,248,249,250,251,252,253],"Pediatric","Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":193,"type":33},{"date":257,"type":33},"2012-01-11",{"date":259,"type":20},"2035-01",{"name":261,"class":101},"University of Pittsburgh",{"id":263,"slug":264,"hasResults":11,"nctId":265,"briefTitle":266,"officialTitle":267,"acronym":4,"eligibilityCriteria":268,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":269,"targetDuration":271,"studyType":62,"phases":4,"briefSummary":272,"conditions":273,"keywords":299,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":305,"lastUpdatePostDateStruct":306,"startDateStruct":308,"completionDateStruct":310,"leadSponsor":312,"locationsCount":74},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":270,"type":20},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[274,275,276,277,278,279,280,281,282,283,284,285,27,286,287,288,289,290,291,292,293,294,295,296,297,298],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[300,301,302,277,303,304,280,281,282,283,284,285,27,286,287,288,289,290,291,292,293,294,295,296,298],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":307,"type":33},"2026-01-14",{"date":309,"type":33},"2024-07-01",{"date":311,"type":20},"2034-12-31",{"name":313,"class":101},"Hospital Italiano de Buenos Aires",{"id":315,"slug":316,"hasResults":11,"nctId":317,"briefTitle":318,"officialTitle":318,"acronym":4,"eligibilityCriteria":319,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":320,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":322,"conditions":323,"keywords":324,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":327,"lastUpdatePostDateStruct":328,"startDateStruct":330,"completionDateStruct":332,"leadSponsor":334,"locationsCount":74},"100300420","a-long-term-follow-up-study-of-gaucher-disease-100300420","NCT03190837","A Long-term Follow-up Study of Gaucher Disease","Inclusion Criteria:\n\n* Diagnosis of Gaucher Disease\n\nExclusion Criteria:\n\n* Not meeting Inclusion criteria",{"count":321,"type":20},200,"The study aims are to: a) identify the long-term natural history of Gaucher disease, b) evaluate long-term treatment efficacy of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), and c) identify potential long-term complications of this disorder. These aims will be accomplished through long-term record review of individuals with all three types of Gaucher disease.",[27],[325,326],"gaucher","gaucher disease","2025-09-16",{"date":329,"type":33},"2025-09-22",{"date":331,"type":33},"2017-06-12",{"date":333,"type":20},"2027-01",{"name":335,"class":101},"Duke University",{"id":337,"slug":338,"hasResults":11,"nctId":339,"briefTitle":340,"officialTitle":341,"acronym":4,"eligibilityCriteria":342,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":135,"enrollmentInfo":343,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":345,"conditions":346,"keywords":347,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":349,"lastUpdatePostDateStruct":350,"startDateStruct":352,"completionDateStruct":354,"leadSponsor":356,"locationsCount":102},"100370332","the-gba-multimodal-study-in-parkinsons-disease-100370332","NCT04101968","The GBA Multimodal Study in Parkinson's Disease","Multimodal Molecular Imaging and Biometric Analysis in GBA-PD and Asymptomatic GBA-mutation Carriers","Inclusion Criteria:\n\n* heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism;\n* age 18 to 80 years.\n\nExclusion Criteria:\n\n* co-occurrence of other neurological disorders;\n* implants that contraindicate the MRI scanning (e.g. cardiac pacemaker, ferromagnetic implants or devices);\n* severe claustrophobia;\n* intolerance to antiparkinsonian drug withdrawal (for GBA-PD subjects);\n* ongoing treatment with cholinergic drugs",{"count":344,"type":20},25,"This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease. This will be assessed through the use of advanced neuroimaging techniques called PET (positron emission tomography) to study the accumulation of the tau protein and the dysfunction of acetylcholine and dopamine in the brain of people with a mutation in the GBA gene, with and without Parkinson's disease. The ingestigators will also use a technology-based assessment to study the typing patterns as possible biomarkers of early motor dysfunctions.",[87,88,27],[348],"Parkinson","2025-05-27",{"date":351,"type":33},"2025-05-31",{"date":353,"type":33},"2019-05-01",{"date":355,"type":20},"2025-12-30",{"name":357,"class":101},"Pacific Parkinson's Research Centre",{"id":359,"slug":360,"hasResults":11,"nctId":361,"briefTitle":362,"officialTitle":362,"acronym":4,"eligibilityCriteria":363,"healthyVolunteers":364,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":365,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":366,"conditions":367,"keywords":369,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":370,"lastUpdatePostDateStruct":371,"startDateStruct":373,"completionDateStruct":375,"leadSponsor":377,"locationsCount":74},"100480469","drug-discovery-for-parkinsons-with-mutations-in-the-gba-gene-100480469","NCT05536388","Drug Discovery for Parkinson's With Mutations in the GBA Gene","Inclusion Criteria:\n\n* Age 18 years or older.\n* Diagnosis of Parkinson's disease, Gaucher disease, or healthy control.\n* Must provide written informed consent unless physical limitations preclude signing.\n\nExclusion Criteria:\n\n* For skin samples collected specifically for this study: history of keloid formation, coagulation disorder, allergy to the anesthetic, or anticoagulation use that precludes sample collection.\n* For blood samples collected specifically for this study: coagulation disorder or other medical condition(s) that increases the risks associated with blood collection.\n* For all prospective sample collections: Subjects who refuse to adhere to NYSCF's and\u002For a collection site's safety protocols will be excluded. Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter (mcL) of blood will be excluded due to increased risk of infection.",true,{"count":158,"type":20},"The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and\u002For store the samples for future use.\n\nThrough this research, researchers hope to identify future treatments or even cures for Parkinson's disease.",[87,27,368,88],"Healthy",[87,88],"2025-02-27",{"date":372,"type":33},"2025-03-03",{"date":374,"type":33},"2022-07-15",{"date":376,"type":20},"2025-07-15",{"name":378,"class":101},"New York Stem Cell Foundation Research Institute",{"id":380,"slug":381,"hasResults":11,"nctId":382,"briefTitle":383,"officialTitle":383,"acronym":4,"eligibilityCriteria":384,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":385,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":387,"conditions":388,"keywords":403,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":404,"lastUpdatePostDateStruct":405,"startDateStruct":407,"completionDateStruct":409,"leadSponsor":411,"locationsCount":74},"100557519","flower-following-longitudinal-outcomes-with-epidemiology-for-rare-diseases-100557519","NCT06539169","FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases","Inclusion Criteria:\n\n* Any person with a known or suspected rare disease, defined by their prevalence of fewer than 200,000 individuals nationwide. Diseases include but are not limited to:\n\nAlpha- or Beta- Thalassemia Amyloidosis Amyotrophic Lateral Sclerosis (ALS) Creutzfeldt-Jakob disease (CJD) Cystic Fibrosis (CF) Duchenne Muscular Dystrophy (DMD) Early-onset Alzheimer's Disease Ehlers-Danlos Syndrome (EDS) Huntington's Disease (HD) Gaucher Disease GM1 Gangliosidosis Myasthenia Gravis Pompe Disease Sickle Cell Disease Transthyretin Amyloid Cardiomyopathy (ATTR-CM) Transthyretin Amyloid Polyneuropathy (ATTR-PN)\n\n\\- Patients or their legally-authorized representative must be willing and able to provide informed consent (and assent, if applicable). Deceased persons may participate via consent of their legally-authorized representative in accordance with applicable Federal and state laws\n\nExclusion Criteria:\n\n* Patient or LAR is unable to provide informed consent.\n* Patient resides in a country other than the United States and is unable to provide access to medical records.",{"count":386,"type":20},1000,"FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA\u002FRNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic\u002Fdigitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification.",[389,390,275,391,392,393,394,395,396,397,27,398,399,400,401,402,274],"Alpha-Thalassemia","Beta-Thalassemia","Amyotrophic Lateral Sclerosis","Creutzfeld-Jakob Disease","Cystic Fibrosis","Duchenne Muscular Dystrophy","Early-Onset Alzheimer Disease","Ehlers-Danlos Syndrome","Huntington Disease","GM1 Gangliosidosis","Myasthenia Gravis","Pompe Disease","Sickle Cell Disease","Transthyretin Amyloid Cardiomyopathy",[300],"2024-11-12",{"date":406,"type":33},"2024-11-14",{"date":408,"type":33},"2024-06-10",{"date":410,"type":20},"2026-06-10",{"name":412,"class":40},"xCures",{"id":414,"slug":415,"hasResults":11,"nctId":416,"briefTitle":417,"officialTitle":418,"acronym":4,"eligibilityCriteria":419,"healthyVolunteers":11,"sex":16,"minAge":420,"maxAge":17,"enrollmentInfo":421,"targetDuration":4,"studyType":21,"phases":423,"briefSummary":424,"conditions":425,"keywords":426,"overallStatus":163,"whyStopped":4,"lastUpdateSubmitDate":428,"lastUpdatePostDateStruct":429,"startDateStruct":431,"completionDateStruct":433,"leadSponsor":435,"locationsCount":74},"100556316","phase-2-efficacy-and-safety-of-eliglustat-in-chinese-pediatric-patients-with-gaucher-disease-type-1-and-type-3-100556316","NCT06523517","Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3","A Single-center, Single-arm, Prospective Clinical Study to Evaluate the Efficacy and Safety of Eliglustat in Chinese Pediatric Patients (≥12 to \u003C18 Years Old) With Gaucher Disease Type 1 and Type 3","Inclusion Criteria:\n\n* The patient is ≥12 to \\\u003C18 years old at the time of informed consent.\n* The patient is diagnosed with Gaucher disease based on the following criteria:\n\n  1. Glucocerebrosidase (GBA) activity reduced to ≤30% of the lower limit of normal, or\n  2. GBA activity reduced by \\>30% of the lower limit of normal, but confirmed by glucocerebrosidase (GBA) genotype.\n* Postmenarchal female patients must have a documented negative pregnancy test prior to enrollment and throughout the study.\n* Patients must have been receiving enzyme replacement therapy (ERT) for a minimum of 24 months at a monthly dose equivalent to 30 U\u002Fkg to 130 U\u002Fkg of enzyme, with treatment ongoing at the time of enrollment. Patients must meet pre-specified treatment goals defined as:\n\n  1. Hemoglobin levels: ≥11.0 g\u002FdL for females and ≥12.0 g\u002FdL for males;\n  2. Platelet count ≥100,000\u002Fmm³;\n  3. Spleen volume \\\u003C10.0 multiples of normal (MN);\n  4. Liver volume \\\u003C1.5 MN.\n* After explaining and discussing all relevant aspects of the study with the patients and their guardians, patients and their guardians must voluntarily sign the written informed consent form approved by the institutional ethics committee.\n* Cytochrome P450 2D6 (CYP2D6) genotype testing shows extensive metabolizers (EMs) or intermediate metabolizers (IMs).\n* Patients agree to avoid consuming grapefruit and grapefruit juice.\n* Patients agree to discontinue medications listed as contraindicated for concomitant use.\n* Participants must be able to cooperate fully as determined by the Principal Investigator to be eligible for the study.\n\nExclusion Criteria:\n\n* Underwent substrate reduction therapy (SRT) for GD or received miglustat treatment within 12 months prior to enrollment.\n* Underwent partial or total splenectomy prior to enrollment or experienced active, clinically significant splenic infarction within the previous 12 months.\n* The patient is transfusion-dependent; has a history of esophageal varices or liver infarction; elevated liver enzymes; significant congenital cardiac defect; coronary artery disease; left-sided heart failure; clinically significant arrhythmias; or conduction defects such as Type 2 second-degree or third-degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).\n* Presence of significant comorbidities, as determined by the Principal Investigator, which may affect study data or confound study results (e.g., malignancies, primary biliary cirrhosis, autoimmune liver disease, pulmonary complications, cardiac structural or functional abnormalities, etc.).\n* The patient with any clinically significant disease other than GD.\n* Experienced severe bone disease such as new-onset bone crises or fractures within 12 months prior to enrollment.\n* The patient has received an investigational product within 30 days prior to enrollment.\n* The patient has a known hereditary galactose intolerance, Lapp lactase deficiency, glucose galactose malabsorption, or is a CYP2D6 ultra-rapid metabolizer or indeterminate metabolizer.\n* The patient is currently receiving erythropoiesis-stimulating agents (e.g., erythropoietin) or long-term systemic corticosteroid therapy, or received such treatment within 6 months prior to enrollment.\n* Positive hepatitis B surface antigen (HBsAg) test results with detectable hepatitis B virus DNA load; positive hepatitis C virus (HCV) antibody with confirmation by HCV RNA polymerase chain reaction (PCR) testing; and positive human immunodeficiency virus (HIV) antibody at screening.\n* Presence of non-GD-related hemolytic anemia (such as due to iron, folate, and\u002For vitamin B12 deficiency or infection\u002Fimmune-mediated causes) at screening. Patients with folate deficiency, vitamin B12 deficiency-related anemia, or iron deficiency-related anemia at screening are ineligible for study enrollment and will be considered screening failures. Patients may receive treatment for underlying conditions and be re-screened at the discretion of the Principal Investigator.\n* The patient and their guardian are unable to comprehend the nature, scope, and potential consequences of the study.\n* The Principal Investigator determines that the patient is unsuitable for participation in the clinical trial based on the subject's overall condition.","12 Years",{"count":422,"type":20},5,[24],"Primary Objective:\n\nEvaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to \\\u003C18 years old) with Gaucher disease type 1 and type 3.\n\nSecondary Objective:\n\nEvaluate the quality of life in Chinese pediatric patients (≥12 to \\\u003C18 years old) with Gaucher disease type 1 and type 3 treated with eliglustat.",[27],[427],"Eliglustat","2024-07-23",{"date":430,"type":33},"2024-07-26",{"date":432,"type":20},"2024-08-01",{"date":434,"type":20},"2025-07-31",{"name":436,"class":101},"Peking Union Medical College Hospital",{"id":438,"slug":439,"hasResults":11,"nctId":440,"briefTitle":441,"officialTitle":442,"acronym":4,"eligibilityCriteria":443,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":444,"targetDuration":4,"studyType":62,"phases":4,"briefSummary":446,"conditions":447,"keywords":4,"overallStatus":163,"whyStopped":4,"lastUpdateSubmitDate":448,"lastUpdatePostDateStruct":449,"startDateStruct":451,"completionDateStruct":453,"leadSponsor":455,"locationsCount":74},"100535957","screening-for-gaucher-disease-and-acid-sphingomyelinase-deficiency-100535957","NCT06258577","Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency","Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency From Taiwanese Candidates With Splenomegaly and\u002For Thrombocytopenia","Inclusion Criteria:\n\n1. Clinical diagnosis of splenomegaly\n2. Clinical diagnosis of thrombocytopenia\n\nExclusion Criteria:\n\n1. Clinical diagnosis of gaucher disease\n2. Clinical diagnosis of acid sphingomyelinase\n3. Clinical diagnosis of malignant tumors",{"count":445,"type":20},50,"High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and\u002For thrombocytopenia in Taiwan",[27],"2024-04-12",{"date":450,"type":33},"2024-04-15",{"date":452,"type":20},"2024-05-01",{"date":454,"type":20},"2028-12-31",{"name":456,"class":101},"Chung-Hsing Wang"]