Clinical Trial: A Natural History of Late Onset Tay-Sachs Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

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

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.

Detailed Summary:

For this study, subjects will come to Massachusetts General Hospital for two study visits, six months apart. At each visit, the following tests will be done:

A Neurological Exam, Several Ataxia Rating Scales, A Formal Speech assessment, Magnetic resonance imaging and spectroscopy, A blood draw, An optional lumbar puncture.

Outcome measures and biomarkers (MRI atrophy measures, chemical shift imaging (CSI), MRS and CSF metabolites) will be compared to the clinical disease course in Late Onset GM2 Gangliosidosis. The natural history by retrospective surveys (previously acquired) will shed light on how changes in outcome measures compare to the larger context of changing symptoms (that occurs on the scale of years and decades). This combined approach will elucidate optimal outcome measures and determine eligibility criteria for a future clinical trial in Late Onset GM2 Gangliosidosis.

The international web-based platform for clinical research networks, NeuroBANK™, in which clinicians and researchers collect and share their patients' clinical and research data, will be used. This system has been implemented by and deployed at the Neurological Clinical Research Institute at Massachusetts General Hospital. This platform allows clinicians to enter patient data, either a) manually via a Web-based interface, or b) by exporting the data from the electronic health record (EHR) and clinical data repositories.

GLOBAL UNIQUE IDENTIFIERS (GUID):

A patient Global Unique Identifier (GUID) will be used as the identifier for individuals participating in the study in NeuroBANK™. The GUID is an 11-character string that is generated using encryption technology and algorithms licensed b
Sponsor: Massachusetts General Hospital

Current Primary Outcome: Change in Brief Ataxia Rating Scale over six months [ Time Frame: baseline and 6 month visits ]

Ataxia rating scale incorporating gait, dysarthria, and coordination


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Change over six months in metabolite levels seen on magnetic resonance spectroscopy [ Time Frame: baseline and 6 months ]
  • Change over six months in lipid levels found in the cerebrospinal fluid [ Time Frame: baseline and 6 months ]


Original Secondary Outcome: Same as current

Information By: Massachusetts General Hospital

Dates:
Date Received: July 19, 2016
Date Started: April 2016
Date Completion:
Last Updated: May 12, 2017
Last Verified: May 2017