A Natural History of Late Onset Tay-Sachs Disease (NCT02851862) | Clinical Trial Compass
CompletedNot Applicable
A Natural History of Late Onset Tay-Sachs Disease
United States10 participantsStarted 2016-04
Plain-language summary
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.
Who can participate
Age range7 Years
SexALL
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Inclusion Criteria:
* The subject must have a confirmed diagnosis of Late Onset GM2 Gangliosidosis as defined by (a) absent to near-absent beta-hexosaminidase enzymatic activity in the serum or white blood cells or (b) mutation analysis of the HEXA and HEXB genes to distinguish pseudo deficiency alleles from disease-causing alleles
* The subject must be older than 7 years of age
Exclusion Criteria:
* If a patient is very severely affected by the disease, the PI will assess whether it is in the best interest of the patient to exclude them from the study for their own comfort and well being. In cases where the PI deems it appropriate, severely affected patients will be excluded. Patients under the age of 7 years will be excluded from this study.
What they're measuring
1
Change in Brief Ataxia Rating Scale over six months