Clinical trials: Tay-Sachs Disease
G(M2) Ganglioside, Tay-Sachs Disease Ganglioside
A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis
Adult Tay-Sachs disease and Sandhoff diseases are caused by deficiency of an enzyme called β-hexosaminidase A, or Hex A in short.
- Conditions
- G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
- Trial name
- NCT00679744
- Testing
- Pyrimethamine
- Where
- 3 sites in United States, Canada
- Sponsor
- Exsar Corporation
Adrenoleukodystrophy, Metachromatic Leukodystrophy
Stem Cell Transplant for Inborn Errors of Metabolism
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for an inherited metabolic…
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease
- Trial name
- NCT00176904
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, Antithymocyte Globulin
- Where
- United States
- Volunteers
- 135 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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
GM2 Gangliosidosis, Niemann-Pick Disease, Type C
Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This phase 2 is a randomized, double-blind, placebo controlled, 12 weeks study with daily oral administration of AZ-3102 aiming to evaluate the safety and pharmacokinetic (PK) profile in GM2 Gangliosidosis and Niemann-Pick type C…
- Trial name
- RAINBOW (NCT05758922)
- Testing
- AZ-3102 (Dose 1), AZ-3102 (Dose 2)
- Where
- 3 sites in Brazil
- Volunteers
- 13 people
- Sponsor
- Azafaros B.V.
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Lysosomal Storage Disease, Peroxisomal Disorder
Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel…
- Trial name
- NCT01626092
- Testing
- Campath-1H, Clofarabine, Melphalan
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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)
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
GM2 Gangliosidosis
A Natural History of Late Onset Tay-Sachs Disease
The purpose of this study is to learn more about the natural history of Late Onset GM2 Gangliosidosis (Tay-Sachs disease and Sandhoff Disease) to inform future clinical trials.
- Trial name
- NCT02851862
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Massachusetts General Hospital
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Gangliosidoses GM2
Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis
The purpose of the study is to investigate the pharmacokinetics of Zavesca (miglustat, OGT918) when given as single and multiple doses in juvenile patients with GM2 gangliosidosis.
- Trial name
- NCT00418847
- Testing
- miglustat
- Where
- Canada
- Volunteers
- 5 people
- Sponsor
- The Hospital for Sick Children
Lysosomal Storage Diseases, Inborn Errors of Metabolism
Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
The purpose of this study is to determine if it is safe to administer unrelated umbilical cord blood to pregnant women in their first trimester of pregnancy with a fetus that has a known diagnosis of certain lysosomal storage…
- Trial name
- IUHST-001 (NCT01003912)
- Testing
- ALD-601
- Where
- 2 sites in United States
- Sponsor
- Joanne Kurtzberg, MD
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
GM2 Gangliosidosis, Tay Sachs Disease
Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease
This study is to continue Long-Term Follow-Up of Patients who were previously treated with AXO-AAV-GM2 Gene Therapy as treatment for Tay-Sachs or Sandhoff Disease to follow the subjects through 5 years after their initial gene…
- Conditions
- GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
- Trial name
- NCT06614569
- Testing
- AXO-AAV-GM2
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Terence Flotte
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Tay Sachs Disease, Sandhoff Disease
Gene Therapy for Tay-Sachs Disease
Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions. This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase Deficiency."…
- Conditions
- Tay Sachs Disease, Sandhoff Disease, Late Onset Tay Sachs Disease
- Trial name
- NCT01869270
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- University of Minnesota
GM1 Gangliosidosis, Sandhoff Disease
GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
- Conditions
- GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
- Trial name
- PRONTO (NCT05109793)
- Where
- 13 sites in United States, Brazil and 4 more
- Volunteers
- 31 people
- Sponsor
- Azafaros B.V.
GM2 Gangliosidoses, Tay-Sachs
Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses
We want to see if Zavesca (or miglustat) is safe and can be tolerated by patients with acute infantile onset GM2 gangliosidosis - classical Tay-Sachs and infantile onset Sandhoff disease.
- Conditions
- GM2 Gangliosidoses, Tay-Sachs, Sandhoff Disease
- Trial name
- NCT00672022
- Testing
- Zavesca (Miglustat)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's National Research Institute
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.