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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01907555
Recruitment Status : Completed
First Posted : July 25, 2013
Last Update Posted : January 31, 2018
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

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.

Condition or disease
Cohen Syndrome

Study Type : Observational [Patient Registry]
Actual Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 1 Day
Actual Study Start Date : July 24, 2013
Actual Primary Completion Date : September 13, 2016
Actual Study Completion Date : September 13, 2016

- Patients presenting Cohen syndrome and two VPS13B mutations
Patients presenting Cohen syndrome without a VPS13B mutation
Patients presenting neutropenia

Primary Outcome Measures :
  1. spectrum of mutations VPS13B [ Time Frame: baseline ]

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Cohen syndrome

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01907555

CHU de Dijon
Dijon, France, 21079
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon

Responsible Party: Centre Hospitalier Universitaire Dijon Identifier: NCT01907555     History of Changes
Other Study ID Numbers: OLIVIER-FAIVRE PHRC N 2012
First Posted: July 25, 2013    Key Record Dates
Last Update Posted: January 31, 2018
Last Verified: January 2018

Additional relevant MeSH terms:
Developmental Disabilities
Intellectual Disability
Muscle Hypotonia
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities
Neuromuscular Manifestations
Refractive Errors
Eye Diseases
Nutrition Disorders
Body Weight