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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-24

Study Completion Date

2016-09-13

Brief Summary

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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.

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Detailed Description

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Conditions

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Cohen Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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- Patients presenting Cohen syndrome and two VPS13B mutations

No interventions assigned to this group

Patients presenting Cohen syndrome without a VPS13B mutation

No interventions assigned to this group

Patients presenting neutropenia

No interventions assigned to this group

Eligibility Criteria

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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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No