[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"gm2-gangliosidosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:gm2-gangliosidosis":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,44,67,117],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":29,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100623674","phase-2-a-study-to-evaluate-the-safety-and-efficacy-of-nizubaglustat-az-3102-in-patients-with-gm2-gangliosidosis-or-niemann-pick-type-c-disease-100623674",false,"NCT07399704","A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease","Open-label Study to Evaluate the Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease, With or Without Previous Administration of Miglustat","PRISMA","Inclusion Criteria:\n\n* Cohort 1 (NPC and GM2 patients):\n\n  * Have been randomized into Phase 2 Study AZA-001-5A2-01.\n\nOR\n\nCohort 2 (NPC patients):\n\n* Be male or female aged ≥12 years\n* Have a genetically-confirmed diagnosis of NPC disease\n* Have received full-dose Miglustat treatment for at least 12 months and experienced disease stabilization or worsening with treatment over the 2 previous clinic visits. Patients experiencing clinical improvement with Miglustat over the preceding 3 months should not be considered for this study.\n* Wish to change treatment to Nizubaglustat for their NPC disease.\n* Participants from Phase 2 Study AZA-001-5A2-01 (RAINBOW) who transitioned to Miglustat may be eligible for Cohort 2 if they meet all other criteria.\n\nParticipation is supported and deemed beneficial by the Principal Investigator. Be willing and able to be evaluated for all protocol assessments. The participant, parent, and\u002For legal guardian can read, understand, and sign the informed consent form. Where appropriate, assent will also be sought for participants who have not reached the age of majority.\n\nExclusion Criteria:\n\n* A positive serum pregnancy test (only tested for women of childbearing potential).\n* Female planning to breastfeed during the study.\n* Any medical event\u002Fcondition that prevents participation in the study based on the judgment of the Principal Investigator.\n* Participation in another interventional or non-interventional study or early access program.","ALL","12 Years",{"count":20,"type":21},21,"ESTIMATED","INTERVENTIONAL",[24],"PHASE2","This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study (Cohort 1). In addition, the study aims to assess safety, clinical, and biochemical impact of transitioning NPC disease patients to Nizubaglustat after prior treatment with stable, full-dose Miglustat (Cohort 2).",[27,28],"GM2 Gangliosidosis","Niemann-Pick Type C Disease",[30],"Nizubaglustat","RECRUITING","2026-06-17",{"date":34,"type":35},"2026-06-18","ACTUAL",{"date":37,"type":35},"2026-02-04",{"date":39,"type":21},"2030-08-07",{"name":41,"class":42},"Azafaros B.V.","INDUSTRY",3,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":17,"minAge":51,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":54,"briefSummary":56,"conditions":57,"keywords":59,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":60,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":66},"100597132","phase-3-a-study-to-evaluate-the-safety-and-efficacy-of-oral-nizubaglustat-az-3102-in-late-infantile-and-juvenile-forms-of-niemann-pick-type-c-disease-gm1-gangliosidosis-or-gm2-gangliosidosis-100597132","NCT07054515","A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis","18-month Double-blind, Randomized, Placebo-controlled, Multicenter, Phase 3 Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease and in Late-infantile and Juvenile-onset Forms of GM1 Gangliosidosis or GM2 Gangliosidosis","Inclusion Criteria:\n\n* Male and female participants, aged 4 years and older with a diagnosis of the late-infantile or juvenile form of NPC disease. Detailed inclusion criteria are presented in the NPC disease-specific subprotocol AZA-001-301-NPC (NCT07082725).\n* Male and female participants, aged 4 years and older with a diagnosis of GM1 or GM2 (Tay-Sachs, Sandhoff, or GM2AB variant disease) gangliosidosis of late-infantile\u002F juvenile onset. Detailed inclusion criteria are presented in the GM1\u002FGM2 gangliosidosis-specific subprotocol AZA-001-301-GMx (NCT07082543).\n\nExclusion Criteria:\n\n* Detailed exclusion criteria are presented in the NPC disease-specific subprotocol AZA-001-301-NPC\n* Detailed exclusion criteria are presented in the GM1\u002FGM2 gangliosidosis-specific subprotocol AZA-001-301-GMx","4 Years",{"count":53,"type":21},147,[55],"PHASE3","An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in late-infantile and juvenile-onset forms of GM1 gangliosidosis or GM2 gangliosidosis",[28,58,27],"GM1 Gangliosidosis",[30],{"date":34,"type":35},{"date":62,"type":35},"2025-06-30",{"date":64,"type":21},"2027-11-04",{"name":41,"class":42},38,{"id":68,"slug":69,"hasResults":11,"nctId":70,"briefTitle":71,"officialTitle":71,"acronym":4,"eligibilityCriteria":72,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":75,"phases":4,"briefSummary":76,"conditions":77,"keywords":81,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":109,"completionDateStruct":111,"leadSponsor":113,"locationsCount":116},"100107860","a-natural-history-study-of-the-gangliosidoses-100107860","NCT00668187","A Natural History Study of the Gangliosidoses","Inclusion Criteria:\n\n1. Subjects must have a documented gangliosidosis disease.\n2. Subjects must be able to complete appropriate neuropsychological and neurobehavioral assessments.\n3. Late-onset gangliosidosis subjects must be able to tolerate a head MRI.\n\nExclusion Criteria:\n\n1\\. There are no exclusion criteria, beyond a desire not to participate.",{"count":74,"type":21},52,"OBSERVATIONAL","Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases.\n\nThis research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis diseases (Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis) in order to better understand the natural history and heterogeneity of these diseases. Such a quantitative method will also be essential for evaluating any treatments that may become available in the future, such as gene therapy. The data from this study will be necessary to provide end-points for future therapies, guide medical decisions about treatment, provide objective measurement of treatment outcomes, and accurately inform parents regarding potential outcomes.",[78,79,80,58,27],"Tay-Sachs Disease","Sandhoff Disease","Late Onset Tay-Sachs Disease",[82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105],"Tay-Sachs disease","Sandhoff disease","Late Onset Tay-Sachs disease","LOTS","hexosaminidase A deficiency","hexosaminidase A and B deficiency","infantile Tay-Sachs disease","adult-onset Tay-Sachs disease","prospective","natural history","GM1 gangliosidosis","gangliosidoses","β-galactosidase","β-galactosidase deficiency","hexosaminidase","hexosaminidase deficiency","Tay-Sachs","Sandhoff","juvenile Tay-Sachs","juvenile Tay-Sachs disease","late onset Tay-Sachs","juvenile Sandhoff","juvenile Sandhoff disease","GM2 gangliosidosis","2026-03-02",{"date":108,"type":35},"2026-03-04",{"date":110,"type":35},"2010-12",{"date":112,"type":21},"2027-03-01",{"name":114,"class":115},"University of Minnesota","OTHER",1,{"id":118,"slug":119,"hasResults":11,"nctId":120,"briefTitle":121,"officialTitle":122,"acronym":123,"eligibilityCriteria":124,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":125,"targetDuration":127,"studyType":75,"phases":4,"briefSummary":128,"conditions":129,"keywords":195,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":202,"lastUpdatePostDateStruct":203,"startDateStruct":205,"completionDateStruct":207,"leadSponsor":209,"locationsCount":211},"100289408","the-myelin-disorders-biorepository-project-100289408","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.",{"count":126,"type":21},12000,"10 Years","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.",[130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,27,190,191,192,193,194],"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","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[196,197,198,199,200,201],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":204,"type":35},"2025-10-23",{"date":206,"type":35},"2016-12-08",{"date":208,"type":21},"2030-12-08",{"name":210,"class":115},"Children's Hospital of Philadelphia",23]