A Natural History of Late Onset Tay-Sachs Disease

NCT02851862 | Completed

• 1 other identifier: 2015P002399
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

GM2 Gangliosidosis

Outcome Measures

Primary Outcomes (1)

• Change in Brief Ataxia Rating Scale over six months

  Ataxia rating scale incorporating gait, dysarthria, and coordination

  baseline and 6 month visits

Secondary Outcomes (2)

• Change over six months in metabolite levels seen on magnetic resonance spectroscopy

  baseline and 6 months

• Change over six months in lipid levels found in the cerebrospinal fluid

  baseline and 6 months

Study Arms (1)

Late Onset GM2 Gangliosidosis

10-15 subjects with Late Onset GM2 Gangliosidosis

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects diagnosed with Late Onset GM2 Gangliosidosis

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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood will be collected to establish lymphoblast cell lines. Cerebrospinal fluid will also be collected from some subjects.

MeSH Terms

Conditions

Gangliosidoses, GM2

Condition Hierarchy (Ancestors)

Gangliosidoses; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Florian Eichler, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 6 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director of the Center for Rare Neurological Diseases

Study Record Dates

• First Submitted: July 19, 2016
• First Posted: August 2, 2016
• Study Start: April 1, 2016
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: March 2, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share

Locations

US (1)