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Showing 1–24 of 35 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Gangliosidosis Clear all
Withdrawn Phase 1 Interventional

A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis

NCT00679744
View directory record Official record
Conditions
G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Interventions
Pyrimethamine
Drug
Lead sponsor
Exsar Corporation
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2008
U.S. locations
2
States / cities
New York, New York • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 24, 2013 · Synced Sep 13, 2026, 9:18 AM EDT
Completed Phase 3 Interventional

Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses

NCT00672022
View directory record Official record
Conditions
GM2 Gangliosidoses, Tay-Sachs, Sandhoff Disease
Interventions
Zavesca (Miglustat)
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
6 Months to 5 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated May 5, 2008 · Synced Sep 13, 2026, 9:18 AM EDT
Active, not recruiting No phase listed Observational

Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease

NCT06614569
View directory record Official record
Conditions
GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
Interventions
AXO-AAV-GM2
Drug
Lead sponsor
Terence Flotte
Other
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
1
States / cities
Worcester, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 15, 2025 · Synced Sep 13, 2026, 9:18 AM EDT
Completed No phase listed Observational

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

NCT05109793
View directory record Official record
Conditions
GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
Interventions
Not listed
Lead sponsor
Azafaros B.V.
Industry
Eligibility
2 Years to 20 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
2
States / cities
Oakland, California • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Sep 28, 2025 · Synced Sep 13, 2026, 9:18 AM EDT
Completed No phase listed Observational Results available

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

NCT02699190
View directory record Official record
Conditions
Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, 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 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, 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
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
236 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 9, 2025 · Synced Sep 13, 2026, 9:18 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Screening of Lysosomal Storage Disorders Diseases in Minority Groups

NCT03812042
View directory record Official record
Conditions
Lysosomal Storage Diseases
Interventions
Enzyme assay and molecular sequencing
Diagnostic Test
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jan 21, 2019 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting Phase 1 Interventional

UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells

NCT02254863
View directory record Official record
Conditions
Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Neimann Pick Disease, Pelizaeus-Merzbacher Disease, Sandhoff Disease, Tay-Sachs Disease, Brain Diseases, Metabolic, Inborn, Alpha-Mannosidosis, Sanfilippo Mucopolysaccharidoses
Interventions
DUOC-01
Biological
Lead sponsor
Joanne Kurtzberg, MD
Other
Eligibility
1 Week to 22 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2027
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 2, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Withdrawn Phase 1 Interventional

Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases

NCT01003912
View directory record Official record
Conditions
Lysosomal Storage Diseases, Inborn Errors of Metabolism
Interventions
ALD-601
Biological
Lead sponsor
Joanne Kurtzberg, MD
Other
Eligibility
18 Years and older · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
2
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 28, 2017 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting Phase 3 Interventional

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 (NPC)

NCT07082725
View directory record Official record
Conditions
Niemann-Pick Type C Disease
Interventions
Nizubaglustat, Placebo
Drug
Lead sponsor
Azafaros B.V.
Industry
Eligibility
4 Years and older
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 16, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Stem Cell Transplant for Inborn Errors of Metabolism

NCT00176904
View directory record Official record
Conditions
Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease, Fucosidosis, Wolman Disease, Niemann-Pick Disease, Batten Disease, GM1 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
Interventions
Stem Cell Transplant, Busulfan, Cyclophosphamide, Antithymocyte Globulin
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Not listed
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2010
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 27, 2017 · Synced Sep 13, 2026, 9:18 AM EDT
Completed No phase listed Observational

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

NCT04470713
View directory record Official record
Conditions
GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease, AB Variant Gangliosidosis GM2, Sandhoff Disease
Interventions
Not listed
Lead sponsor
Idorsia Pharmaceuticals Ltd.
Industry
Eligibility
0 Months and older
Enrollment
226 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
3
States / cities
Chicago, Illinois • Rochester, Minnesota • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Nov 7, 2021 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting No phase listed Observational

Longitudinal Study of Neurodegenerative Disorders

NCT03333200
View directory record Official record
Conditions
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, Gaucher Disease, 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
Interventions
Palliative Care, Hematopoetic Stem Cell Transplantation
Other · Biological
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2035
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 8, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis

NCT04713475
View directory record Official record
Conditions
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
Interventions
PBGM01
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 24 Months
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
4
States / cities
Oakland, California • Minneapolis, Minnesota • New Brunswick, New Jersey + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Terminated Phase 1 Interventional Results available

A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

NCT04669535
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease
Interventions
AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose, AXO-AAV-GM2 High Dose
Biological
Lead sponsor
Terence Flotte
Other
Eligibility
6 Months to 12 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
2
States / cities
Boston, Massachusetts • Worcester, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 1, 2025 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting No phase listed Observational

A Natural History Study of the Gangliosidoses

NCT00668187
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease, Late Onset Tay-Sachs Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
Not listed
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2027
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 3, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis

NCT03952637
View directory record Official record
Conditions
Lysosomal Diseases, Gangliosidosis, GM1
Interventions
AAV9-GLB1, Abdominal ultrasound, Rituximab, Sirolimus, Methylprednisolone, Prednisone, Audiology assessment with ABR, Bone density scan (DEXA), Electrocardiogram (EKG), Echocardiogram, Electroencephalogram (EEG) awake and extended overnight, Laboratory tests, Lumbar puncture, Brain MRI/MRS/fMRI, Neurocognitive testing, Neurology exam, PICC or other Central line placement, Skeletal survey, Skin biopsy, Speech and modified barium swallow study, Ophthalmology exam
Biological · Procedure · Drug + 3 more
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
6 Months to 12 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Completed No phase listed Observational

Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients

NCT04041102
View directory record Official record
Conditions
GM1 Gangliosidosis
Interventions
Not listed
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
2
States / cities
Oakland, California • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 23, 2025 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting No phase listed Observational

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

NCT00029965
View directory record Official record
Conditions
Neurological Regression, Myoclonus, Cherry Red Spot, Brain Atrophy
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Day to 100 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 13, 2026, 9:18 AM EDT
Completed Phase 2 Interventional Results available

N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)

NCT03759665
View directory record Official record
Conditions
GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease
Interventions
IB1001
Drug
Lead sponsor
IntraBio Inc
Industry
Eligibility
6 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
3
States / cities
Los Angeles, California • Rochester, Minnesota • New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 11, 2024 · Synced Sep 13, 2026, 9:18 AM EDT
Terminated Phase 3 Interventional

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases

NCT00654433
View directory record Official record
Conditions
Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism, Mucopolysaccharidosis
Interventions
ALD-101
Biological
Lead sponsor
Aldagen
Industry
Eligibility
Up to 16 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
3
States / cities
Los Angeles, California • New York, New York • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 7, 2014 · Synced Sep 13, 2026, 9:18 AM EDT
Completed Not applicable Interventional Results available

Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders

NCT01626092
View directory record Official record
Conditions
Lysosomal Storage Disease, Peroxisomal Disorder
Interventions
Campath-1H, Clofarabine, Melphalan, Total Body Irradiation with Marrow Boosting, Hematopoietic stem cell transplantation, Cyclosporine A, Mycophenolate mofetil
Drug · Radiation · Biological
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 4, 2017 · Synced Sep 13, 2026, 9:18 AM EDT
Terminated Phase 4 Interventional Results available

Synergistic Enteral Regimen for Treatment of the Gangliosidoses

NCT02030015
View directory record Official record
Conditions
GM1 Gangliosidoses, GM2 Gangliosidoses, Tay-Sachs Disease, Sandhoff Disease
Interventions
miglustat, Ketogenic Diet
Drug · Other
Lead sponsor
University of Minnesota
Other
Eligibility
Up to 204 Months
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 13, 2021 · Synced Sep 13, 2026, 9:18 AM EDT
Recruiting No phase listed Observational

The Myelin Disorders Biorepository Project

NCT03047369
View directory record Official record
Conditions
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
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Not listed
Enrollment
12,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2030
U.S. locations
23
States / cities
Los Angeles, California • Orange, California • Palo Alto, California + 18 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2025 · Synced Sep 13, 2026, 9:18 AM EDT
Completed No phase listed Observational

A Natural History of Late Onset Tay-Sachs Disease

NCT02851862
View directory record Official record
Conditions
GM2 Gangliosidosis
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
7 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 1, 2026 · Synced Sep 13, 2026, 9:18 AM EDT