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

Cohen Syndrome Clinical Trial

Status Completed

Clinical Trial 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.

Clinical Trial Description

n/a

Related Conditions & MeSH terms

• Cohen Syndrome
• Developmental Disabilities
• Intellectual Disability
• Microcephaly
• Muscle Hypotonia
• Myopia
• Obesity
• Syndrome

• NCT number: NCT01907555
• Study type: Observational [Patient Registry]
• Source: Centre Hospitalier Universitaire Dijon
• Status: Completed
• Phase: N/A
• Start date: July 24, 2013
• Completion date: September 13, 2016