NCT01907555CompletedNot Applicable
Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes
Centre Hospitalier Universitaire Dijon1 site in 1 country100 target enrollmentStarted: July 24, 2013Last updated:
Conditions
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Enrollment
- 100
- Locations
- 1
- Primary Endpoint
- spectrum of mutations VPS13B
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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 Criteria
- •- 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.
Outcomes
Primary Outcomes
spectrum of mutations VPS13B
Time Frame: baseline
Secondary Outcomes
No secondary outcomes reported
Investigators
Study Sites (1)
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