Clinical trials: GM2 Gangliosidosis, open to volunteers
Neurological Regression, Myoclonus
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis.
- Conditions
- Neurological Regression, Myoclonus, Cherry Red Spot, Brain Atrophy
- Trial name
- NCT00029965
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
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.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
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…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
Lysosomal Storage Disorders, Sandhoff Disease
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Sandhoff Disease, Krabbe Disease, CLN2
- Trial name
- NCT07740512
- Testing
- PLX-200
- Volunteers
- 24 people
- Sponsor
- Polaryx Therapeutics, Inc.
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Tay-Sachs Disease, Sandhoff Disease
A Natural History Study of the Gangliosidoses
Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases. This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis…
- Conditions
- Tay-Sachs Disease, Sandhoff Disease, Late Onset Tay-Sachs Disease, GM1 Gangliosidosis
- Trial name
- NCT00668187
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- University of Minnesota
Niemann-Pick Type C Disease, GM1 Gangliosidosis
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
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…
- Conditions
- Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
- Trial name
- NCT07054515
- Testing
- AZ-3102
- Where
- 39 sites in United States, Argentina and 15 more
- Volunteers
- 147 people
- Sponsor
- Azafaros B.V.
Niemann-Pick Type C Disease
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)
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
- Trial name
- NCT07082725
- Testing
- Nizubaglustat
- Where
- 34 sites in United States, Argentina and 13 more
- Volunteers
- 72 people
- Sponsor
- Azafaros B.V.
Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines.
- Trial name
- GM2-TGEX (NCT07445490)
- Testing
- blood sample
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris