Clinical trials: Tay Sachs Disease
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
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
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
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
Gangliosidoses, GM2, Sandhoff Disease
Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)
The objectives of this clinical trial are to assess the safety and tolerability, as well as efficacy, of a stepwise dosing regimen of pyrimethamine, starting at 25 mg/day, given as a single dose daily for 4 weeks in patients…
- Conditions
- Gangliosidoses, GM2, Sandhoff Disease, Tay-Sachs Disease
- Trial name
- NCT01102686
- Testing
- Pyrimethamine, Leucovorin
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- The Hospital for Sick Children
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
Tay-Sachs Disease, Porphyria, Erythropoietic
Diagnostic and Screening Study of Genetic Disorders
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history. II.
- Conditions
- Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
- Trial name
- NCT00006057
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Center for Research Resources (NCRR)