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OpenTrials
Completed

NCT Number: NCT01907555

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

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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Key information

Conditions

Cohen Syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU de Dijon

Dijon, 21079, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. spectrum of mutations VPS13B

    Time frame: baseline

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Important dates

Study start
2013
Primary completion
2016
Study completion
2016
First posted
Jul 25, 2013
Registry last updated
Jan 31, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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