Status:
COMPLETED
Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Cohen Syndrome
Eligibility:
All Genders
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 p...
Eligibility Criteria
Inclusion
- Patients presenting Cohen syndrome and two VPS13B mutations
- who accept a clinical evaluation, and to provide at least one blood sample
- Patients presenting the diagnostic criteria of Cohen syndrome, but without a VPS13B mutation
- Patients presenting neutropenia or pigmentary retinopathy and at least one of the following signs, after exclusion of any other syndrome: mental retardation, microcephaly, truncal obesity
Exclusion
- \- Patients who do not meet the clinical and/or molecular criteria
- Patients who do not wish to provide a blood sample for question 1,
- Patients who have not provided written informed consent,
- Pregnant or breast-feeding women,
- Persons not covered by National Health Insurance and persons under guardianship or in prison.
Key Trial Info
Start Date :
July 24 2013
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 13 2016
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT01907555
Start Date
July 24 2013
End Date
September 13 2016
Last Update
January 31 2018
Active Locations (1)
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1
CHU de Dijon
Dijon, France, 21079