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A Natural History of Late Onset Tay-Sachs Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02851862
Recruitment Status : Recruiting
First Posted : August 2, 2016
Last Update Posted : September 10, 2020
Information provided by (Responsible Party):
Florian Eichler, Massachusetts General Hospital

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.

Condition or disease
GM2 Gangliosidosis

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 15 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 6 Months
Official Title: A Natural History of Late Onset Tay-Sachs Disease: MGH Site
Study Start Date : April 2016
Estimated Primary Completion Date : May 2021
Estimated Study Completion Date : May 2021

Late Onset GM2 Gangliosidosis
10-15 subjects with Late Onset GM2 Gangliosidosis

Primary Outcome Measures :
  1. Change in Brief Ataxia Rating Scale over six months [ Time Frame: baseline and 6 month visits ]
    Ataxia rating scale incorporating gait, dysarthria, and coordination

Secondary Outcome Measures :
  1. Change over six months in metabolite levels seen on magnetic resonance spectroscopy [ Time Frame: baseline and 6 months ]
  2. Change over six months in lipid levels found in the cerebrospinal fluid [ Time Frame: baseline and 6 months ]

Biospecimen Retention:   Samples With DNA
Blood will be collected to establish lymphoblast cell lines. Cerebrospinal fluid will also be collected from some subjects.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects diagnosed with Late Onset GM2 Gangliosidosis

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02851862

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Contact: Neha Godbole, BS 617-724-1330

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United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Peter James, BA    617-643-4218   
Principal Investigator: Florian Eichler, MD         
Sponsors and Collaborators
Massachusetts General Hospital
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Principal Investigator: Florian Eichler, MD Massachusetts General Hospital
Additional Information:

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Responsible Party: Florian Eichler, Director of the Center for Rare Neurological Diseases, Massachusetts General Hospital Identifier: NCT02851862    
Other Study ID Numbers: 2015P002399
First Posted: August 2, 2016    Key Record Dates
Last Update Posted: September 10, 2020
Last Verified: September 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data from this study will be stored in a computer data repository at the Massachusetts General Hospital (MGH) Neurological Clinical Research Institute (NCRI). The purpose of this data repository is to capture and store data for clinical research. The repository will combine data from multiple studies. Datasets will be shared with researchers who want to advance understanding of Neurological Disease. These datasets will not contain any personal identifiable information.
Additional relevant MeSH terms:
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Tay-Sachs Disease
Gangliosidoses, GM2
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders