A Natural History of Late Onset Tay-Sachs Disease

Completed

Conditions studied: GM2 Gangliosidosis

In brief

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.

Key facts

Study ID

NCT02851862

Run by

Massachusetts General Hospital

People needed

10

Starts

2016-04-01

Expected to finish

2025-12-01

Last updated by the study team

2026-03-02

Who can join

Age: 7 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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.

Where it is running

• Massachusetts General Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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