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A Natural History of Late Onset Tay-Sachs Disease

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ClinicalTrials.gov Identifier: NCT02851862
Recruitment Status : Active, not recruiting
First Posted : August 2, 2016
Last Update Posted : June 20, 2018
Sponsor:
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

  Show Detailed Description

Study Type : Observational [Patient Registry]
Estimated Enrollment : 10 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
Actual Primary Completion Date : April 2018
Estimated Study Completion Date : April 2019


Group/Cohort
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.


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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
Criteria

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 ClinicalTrials.gov identifier (NCT number): NCT02851862


Locations
United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Sponsors and Collaborators
Massachusetts General Hospital
Investigators
Principal Investigator: Florian Eichler, MD Massachusetts General Hospital

Responsible Party: Florian Eichler, Director of the Center for Rare Neurological Diseases, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT02851862     History of Changes
Other Study ID Numbers: 2015P002399
First Posted: August 2, 2016    Key Record Dates
Last Update Posted: June 20, 2018
Last Verified: June 2018
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:
Gangliosidoses
Tay-Sachs Disease
Gangliosidoses, GM2
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders