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Trial record 3 of 22 for:    Tay Sachs

A Natural History of Late Onset Tay-Sachs Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2016 by Massachusetts General Hospital
Sponsor:
Information provided by (Responsible Party):
Florian Eichler, Massachusetts General Hospital
ClinicalTrials.gov Identifier:
NCT02851862
First received: July 19, 2016
Last updated: July 28, 2016
Last verified: July 2016
  Purpose
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
GM2 Gangliosidosis

Study Type: Observational [Patient Registry]
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Massachusetts General Hospital:

Primary Outcome Measures:
  • Change in Brief Ataxia Rating Scale over six months [ Time Frame: baseline and 6 month visits ] [ Designated as safety issue: No ]
    Ataxia rating scale incorporating gait, dysarthria, and coordination


Secondary Outcome Measures:
  • Change over six months in metabolite levels seen on magnetic resonance spectroscopy [ Time Frame: baseline and 6 months ] [ Designated as safety issue: No ]
  • Change over six months in lipid levels found in the cerebrospinal fluid [ Time Frame: baseline and 6 months ] [ Designated as safety issue: No ]

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

Estimated Enrollment: 10
Study Start Date: April 2016
Estimated Primary Completion Date: April 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts
Late Onset GM2 Gangliosidosis
10-15 subjects with Late Onset GM2 Gangliosidosis

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   7 Years and older   (Child, Adult, Senior)
Genders Eligible for Study:   Both
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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02851862

Contacts
Contact: Elizabeth Haxton, BA 617-724-6374 ehaxton@partners.org

Locations
United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Elizabeth Haxton, BA    617-724-6374      
Principal Investigator: Florian Eichler, MD         
Sponsors and Collaborators
Massachusetts General Hospital
Investigators
Principal Investigator: Florian Eichler, MD Massachusetts General Hospital
  More Information

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 
Study First Received: July 19, 2016
Last Updated: July 28, 2016
Health Authority: United States: Partner's Human Research Committee
Individual Participant Data  
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:
Tay-Sachs Disease
Gangliosidoses
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

ClinicalTrials.gov processed this record on December 09, 2016