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

Cohen Syndrome Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01907555
• Other study ID #: OLIVIER-FAIVRE PHRC N 2012
• Status: Completed
• Phase: N/A
• First received: July 17, 2013
• Last updated: January 30, 2018
• Start date: July 24, 2013
• Est. completion date: September 13, 2016

Study information

• Verified date: January 2018
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: September 13, 2016
• Est. primary completion date: September 13, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
France	CHU de Dijon	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	spectrum of mutations VPS13B		baseline