[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"x-linked-adrenoleukodystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:x-linked-adrenoleukodystrophy":34},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,111,142,177,198,225],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":91,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":110},"100289408","the-myelin-disorders-biorepository-project-100289408",false,"NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.","ALL",{"count":19,"type":20},12000,"ESTIMATED","10 Years","OBSERVATIONAL","The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","Krabbe Disease","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","MLD","Metachromatic Leukodystrophy","PMD","Pelizaeus-Merzbacher Disease","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Vanishing White Matter Disease","Charcot-Marie-Tooth","CMT","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Allan-Herndon-Dudley Syndrome","Cadasil","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[92,93,94,95,96,97],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","RECRUITING","2025-10-22",{"date":101,"type":102},"2025-10-23","ACTUAL",{"date":104,"type":102},"2016-12-08",{"date":106,"type":20},"2030-12-08",{"name":108,"class":109},"Children's Hospital of Philadelphia","OTHER",23,{"id":112,"slug":113,"hasResults":11,"nctId":114,"briefTitle":115,"officialTitle":116,"acronym":4,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":17,"minAge":118,"maxAge":119,"enrollmentInfo":120,"targetDuration":4,"studyType":122,"phases":123,"briefSummary":125,"conditions":126,"keywords":127,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":133,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":141},"100341589","it-and-iv-lentiviral-gene-therapy-for-x-ald-100341589","NCT03727555","IT and IV Lentiviral Gene Therapy for X-ALD","Intrathecal and Intravenous Lentiviral Gene Therapy for X-linked Adrenoleukodystrophy (X-ALD)","Inclusion Criteria:\n\n1. X-ALD patients ≥ 1 year of age\n2. ALD diagnosis of the brain: evaluation of the VLCFA value in plasma\n3. Central imaging of the MRI to examine the damage on the CNS.\n4. Neurological function score (NFS) ≥ 1\n5. Parent \u002F guardian \u002F patient signing informed consent\n6. Patients and their families have a strong willingness to participate in clinical trials, and are willing to bear all the consequences caused by the failure of the trial, and sign an informed consent form\n\nExclusion Criteria:\n\n1. HIV positive patients\n2. Stablized condition after statins, Lorenzo's oil, or diet to reduce VLCFA levels\n3. Patients who are experiencing severe viral, bacterial or fungal infections, malignant tumors, heart abnormalities, liver dysfunction, or renal insufficiency\n4. Cannot perform an MRI\n5. Infection or dermatosis at pre-injection site","1 Year","60 Years",{"count":121,"type":20},30,"INTERVENTIONAL",[124],"NA","This is a Phase I\u002FII clinical trial of gene therapy for treating X-linked adrenoleukodystrophy using a high-safety, high-efficiency, self-inactivating lentiviral vector (LV) TYF-ABCD1 to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the intrathecal and intravenous lentiviral gene transfer clinical protocol.",[34],[128,129,130,131],"X-linked adrenoleukodystrophy","Lentiviral vector","Intrathecal injection","Intravenous injection","2025-09-08",{"date":134,"type":102},"2025-09-09",{"date":136,"type":102},"2025-08-31",{"date":138,"type":20},"2028-12-31",{"name":140,"class":109},"Shenzhen Geno-Immune Medical Institute",1,{"id":143,"slug":144,"hasResults":11,"nctId":145,"briefTitle":146,"officialTitle":147,"acronym":148,"eligibilityCriteria":149,"healthyVolunteers":11,"sex":150,"minAge":151,"maxAge":4,"enrollmentInfo":152,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":154,"conditions":155,"keywords":156,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":168,"lastUpdatePostDateStruct":169,"startDateStruct":171,"completionDateStruct":173,"leadSponsor":175,"locationsCount":141},"100414371","quality-of-life-in-women-with-x-linked-adrenoleukodystrophy-100414371","NCT04675749","Quality of Life in Women with X-linked Adrenoleukodystrophy","Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy","X-ALD_QoL","Inclusion Criteria:\n\n* Informed consent obtained from the participant\n* Females ≥18 years at the time of consent, with proven X-ALD as defined by\n\n  1. Elevated VLCFA values, or\n  2. Mutation in ABCD1 gene\n\nExclusion Criteria:\n\n* No informed consent and assent\n* Current pregnancy","FEMALE","18 Years",{"count":153,"type":20},200,"X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids. This results in an accumulation of very long chain fatty acids (VLCFA) in the cells of the body causing damage to the central nervous system (white matter of the brain and spinal cord). The most common adult-onset X-ALD phenotype is adrenomyeloneuropathy (AMN), a slowly progressive myelopathic variant with demyelination of the long tracts in the spinal cord, clinically manifested as slowly progressive spastic paraparesis, sensory ataxia, bladder and sexual dysfunction.\n\nAlthough this rare disease is inherited X-linked, previous research revealed that up to 80% of heterozygous women develop AMN symptoms during their lifetime.\n\nThe primary objectives of this study are 1) to assess the prevalence of symptomatic courses in female carriers of X-ALD and 2) to determine the impact of AMN symptoms on the quality of life of affected women in various areas (including everyday life, work, social network, sleep quality, sexuality, mood).\n\nParticipants are asked to fill in self-report questionnaires, which are available in English, German, French, Spanish, and Italian, and are provided electronically on the online platform Leuconnect (https:\u002F\u002Fwww.leuconnect.com) launched by European Leukodystrophies Association (ELA) international (https:\u002F\u002Felainternational.eu\u002F).",[34],[29,36,157,158,159,160,161,162,163,164,165,166,167],"Brain Diseases, Metabolic, Inborn","Central Nervous System Diseases","Demyelinating Diseases","White Matter Disorder","Genetic Diseases, X-Linked","Peroxisomal Disorders","Metabolic Diseases","Female Carrier","Adrenoleukodystrophy, women","Heterozygous Carrier","Quality of Life","2025-01-02",{"date":170,"type":102},"2025-01-03",{"date":172,"type":102},"2019-12-01",{"date":174,"type":20},"2027-03-01",{"name":176,"class":109},"Leipzig University Medical Center",{"id":178,"slug":179,"hasResults":11,"nctId":180,"briefTitle":181,"officialTitle":182,"acronym":4,"eligibilityCriteria":183,"healthyVolunteers":11,"sex":150,"minAge":151,"maxAge":4,"enrollmentInfo":184,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":186,"conditions":187,"keywords":4,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":191,"completionDateStruct":193,"leadSponsor":195,"locationsCount":141},"100529772","disease-progression-in-women-with-x-linked-adrenoleukodystrophy-100529772","NCT06178120","Disease Progression in Women With X-linked Adrenoleukodystrophy","An Observational Study to Assess Disease Progression in Women With X-linked Adrenoleukodystrophy","Inclusion Criteria:\n\n1. Women aged 18 years old or older.\n2. Diagnosis of X-linked ALD based on genetic testing, altered VLCFA levels, or family history.\n3. Willing to undergo annual follow-up visits, including brain and spinal cord MRI scans.\n4. Provision of written informed consent.\n5. Affiliation or beneficiary of a French social security system or of such a regime.\n\nExclusion Criteria:\n\n1. Any condition that in the opinion of the investigator are likely to adversely affect the study participation, interfere with study compliance, or confound the study results.\n2. Under treatment or previous treatment with leriglitazone.\n3. Pregnant or lactating women.\n4. Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship.\n5. Participation in an interventional clinical trial.",{"count":185,"type":20},40,"Observational, single-site prospective and minimally interventional study in women with X-linked adrenoleukodystrophy (ALD), conducted in France.",[34],"2024-01-29",{"date":190,"type":102},"2024-01-31",{"date":192,"type":102},"2024-01-02",{"date":194,"type":20},"2027-06",{"name":196,"class":197},"Minoryx Therapeutics, S.L.","INDUSTRY",{"id":199,"slug":200,"hasResults":11,"nctId":201,"briefTitle":202,"officialTitle":202,"acronym":4,"eligibilityCriteria":203,"healthyVolunteers":204,"sex":17,"minAge":205,"maxAge":206,"enrollmentInfo":207,"targetDuration":208,"studyType":22,"phases":4,"briefSummary":209,"conditions":210,"keywords":211,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":216,"lastUpdatePostDateStruct":217,"startDateStruct":219,"completionDateStruct":221,"leadSponsor":223,"locationsCount":141},"100511422","registry-of-x-linked-adrenoleukodystrophy-100511422","NCT05939232","Registry of X-linked Adrenoleukodystrophy","Inclusion Criteria:\n\nX-ALD group：\n\n* Meet the diagnostic criteria of X-ALD and supported by the results of genetic and very long chain fatty acid (VLCFA) test;\n* Age: 6 - 70 years old;\n* Able to communicate normally, and complete the test of scale as instructed (confirmed by the field test of scale);\n* Sign the informed consent.\n\nCarrier-control group:\n\nHealthy people who have no significant difference in age, sex and education comparing with the X-ALD group, volunteer to participate in this study, could complete the test of scale as instructed, and meet the following criteria:\n\n* Eligible for asymptomatic carriers in genetic tests (preference of patient's mother and close relatives);\n* Age: 6 - 70 years old, able to complete the test of scale as instructed (confirmed by the field test of scale);\n* No history of psychiatric diseases.\n\nExclusion Criteria:\n\n* Other hereditary diseases;\n* Other severe central nervous diseases;\n* History of surgery of brain or eye;\n* Psychiatric and psychological diseases, such as anxiety and depression;\n* Metal foreign body or prosthesis in the human body (such as pacemaker and insulin pump), claustrophobia, and other MRI contraindications;\n* History of surgery associated with gastrointestinal tract;\n* No informed consent;\n* Unable to tolerate MRI or eye related tests.",true,"6 Years","70 Years",{"count":153,"type":20},"5 Years","This study is a observational study conducted through recruiting X-linked adrenoleukodystrophy (X-ALD) patients, to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients, and to provide a theoretical basis for the treatment and management of X-ALD patients.",[34],[34,212,213,214,215],"Genetic data","Phenotype","Imaging feature","Mechanism","2023-07-02",{"date":218,"type":102},"2023-07-11",{"date":220,"type":20},"2023-07-20",{"date":222,"type":20},"2028-12-01",{"name":224,"class":109},"Beijing Tiantan Hospital",{"id":226,"slug":227,"hasResults":11,"nctId":228,"briefTitle":229,"officialTitle":229,"acronym":230,"eligibilityCriteria":231,"healthyVolunteers":204,"sex":17,"minAge":151,"maxAge":4,"enrollmentInfo":232,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":233,"conditions":234,"keywords":235,"overallStatus":244,"whyStopped":4,"lastUpdateSubmitDate":245,"lastUpdatePostDateStruct":246,"startDateStruct":248,"completionDateStruct":250,"leadSponsor":252,"locationsCount":4},"100509322","validation-of-a-prognostic-biomarker-using-brain-diffusion-mri-in-x-linked-adrenoleukodystrophy-100509322","NCT05911919","Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy","CALDIFF","Patients:\n\nInclusion criteria\n\n* \\> 18 years old\n* Male gender\n* Genetically diagnosed with ALD by carrying an ABCD1 pathogenic variant\n* Signed written informed consent\n* Affiliation to a social security regime (patient with AME cannot be included)\n\nExclusion criteria\n\n* Patient with non-arrested CALD\n* Other neurological conditions such as brain tumour, stroke or a traumatic head injury\n* Contraindication to MRI (claustrophobia, implanted metal components in the head, panic disorder, epilepsy)\n* People under legal protection measure (tutorship, curatorship or safeguard measures)\n* Patient included in another interventional clinical trial\n\nHealthy volunteers\n\nInclusion criteria\n\n* Male or female subject from 18 to 65 years old\n* In general good health condition\n* Signed written informed consent\n* Affiliation to a social security regime (healthy volunteers with AME cannot be enrolled)\n\nExclusion criteria\n\n* People under legal protection measure (tutorship, curatorship or safeguard measures)\n* Contraindication to MRI (claustrophobia, implanted metal components in the head, panic disorder, epilepsy)\n* History of previous brain disease (including but not limited to cranial trauma in the last 12 months, glioma, stroke, neurodegenerative diseases)\n* Arterial hypertension as defined in WHO criteria\n* Volunteer included in another interventional clinical trial\n* Pregnancy and breastfeeding women",{"count":153,"type":20},"CALD is an inflammatory demyelinating disease that causes severe motor and cognitive deficit leading to rapid death. Hematopoietic stem cell transplantation (HSCT) can halt neuroinflammation in CALD through the replacement of microglia (i.e., brain immune system) but only if performed during its early phase.\n\nUsing standard brain MRI, it is estimated that only 30% of adult CALD patients are identified. Complex and lengthy clinical evaluations together with MRI reading from experts improve CALD detection but are not available in routine clinical practice.\n\nDiffusion tensor imaging is a quantitative microstructural technique that can identify neuroinflammation at a very early stage. Still, its implementation in clinical practice has been very limited due to high inter-center measurements variability and bias due to data quality issues. The approach we will use solves these problems by introducing an automatic calibration and standardization with systematic quality control enabling the use of all MRI scanners in clinical settings.\n\nThe innovative aspect of this project lies on the validation of an expert-independent prognosis biomarker able to specifically identify patients at high-risk to convert to CALD so that treatment can be initiated at the early stage of neuroinflammation.\n\nWe aim to demonstrate that this tool has at least a 2-fold sensitivity compared to the current standard of care.",[34],[236,237,238,239,240,241,242,243],"Cerebral adrenoleukodystrophy (CALD)","adrenomyeloneuropathy (AMN)","ABCD1","MRI","Diffusion Tensor Imaging (DTI)","Brain-Quant","Male","Adult","NOT_YET_RECRUITING","2023-06-30",{"date":247,"type":102},"2023-07-03",{"date":249,"type":20},"2023-09",{"date":251,"type":20},"2028-09",{"name":253,"class":109},"Assistance Publique - Hôpitaux de Paris"]