Gene therapy for Tay-Sachs and related diseases
Not Applicable
Completed
- Conditions
- Tay-Sachs disease, Sandhoff diseaseNutritional, Metabolic, EndocrineDisorders of sphingolipid metabolism and other lipid storage disorders
Recruitment & Eligibility
- Status
- Completed
- Sex
- All
- Target Recruitment
- 12
Inclusion Criteria
1. Male and female infants and young subjects aged 3 months to 18 years
2. GM2 gangliosidosis confirmed by biochemical analysis and molecular analysis of cognate HEXA or HEXB genes in the presymptomatic phase with normal neuromotor development, physical examination and cerebral MR imaging
Exclusion Criteria
1. GM2 activator deficiency
2. Developmental regression or other features of symptomatic GM2 gangliosidosis
3. Clinical or radiological abnormalities of the central nervous system
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method o acute or sub-acute events causing deterioration in neurological function or impaired structural integrity of central nervous system.
- Secondary Outcome Measures
Name Time Method Secondary end-point criteria on which phase III efficacy studies will be predicated, will compare outcomes in siblings with disease in affected pedigrees with Tay-Sachs and related diseases, as well as population data on the natural course of GM2 gangliosidosis. Procedures include banking of biological samples and interval neuropsychological evaluation.