Clinical Trial: Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes

Study Status: Withdrawn
Recruit Status: Withdrawn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

Official Title:

Brief Summary: This project will make it possible to better understand the natural history of Cohen Syndrom and the phenotypes associated with mutations in the VPS13B gene, to improve the therapeutic management of patients. It will also provide a better description of Cohen-like syndrome for genetic counselling for the families concerned.

Detailed Summary:
Sponsor: Centre Hospitalier Universitaire Dijon

Current Primary Outcome: spectrum of mutations VPS13B [ Time Frame: baseline ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Centre Hospitalier Universitaire Dijon

Dates:
Date Received: July 17, 2013
Date Started: May 2013
Date Completion:
Last Updated: July 22, 2013
Last Verified: July 2013