A Natural History of Late Onset Tay-Sachs Disease: MGH Site

Trial Information
Status: Recruiting
Location: See location...
Study Type: Observational [Patient Registry]

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.

Am I eligible for this trial?
Participation Requirements
Minimum Age:
Healthy Volunteers:

• 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

Where is this trial taking place?
United States
Massachusetts General Hospital
Who do I contact about this trial?
Neha Godbole, BS
When is this trial taking place?
Start Date: April 2016
Estimated Completion Date: May 2021
How many participants will be in this trial?
Target number of participants: 15
What treatment is being studied in this trial?
Late Onset GM2 Gangliosidosis
10-15 subjects with Late Onset GM2 Gangliosidosis
Who are the authors of this trial?
What other conditions are being studied in this trial?

This content was sourced from clinicaltrials.gov

Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study
Who is this study for:Patients with GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease
Status:Active, not recruiting
Start Date:June 7, 2019
Study Drug:IB1001
Study Type:Drug
Phase: Phase 2
Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases
Who is this study for:Patients with infantile type of Sandhoff and Taysachs diseases
Start Date:January 14, 2019
Study Drug:Miglustat
Study Type:Drug
Phase: Phase 3