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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01907555

Enrollment

100

Registered

2013-07-25

Start date

2013-07-24

Completion date

2016-09-13

Last updated

2018-01-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cohen Syndrome

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame
spectrum of mutations VPS13B	baseline

Countries

France

Outcome results