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

This study has been withdrawn prior to enrollment.
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon Identifier:
First received: July 17, 2013
Last updated: July 22, 2013
Last verified: July 2013
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.

Cohen Syndrome

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 1 Day

Resource links provided by NLM:

Further study details as provided by Centre Hospitalier Universitaire Dijon:

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

Enrollment: 0
Study Start Date: May 2013
Estimated Primary Completion Date: May 2015 (Final data collection date for primary outcome measure)
- Patients presenting Cohen syndrome and two VPS13B mutations
Patients presenting Cohen syndrome without a VPS13B mutation
Patients presenting neutropenia


Ages Eligible for Study:   Child, Adult, Senior
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.
  Contacts and Locations
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No Contacts or Locations Provided
  More Information

Responsible Party: Centre Hospitalier Universitaire Dijon Identifier: NCT01907555     History of Changes
Other Study ID Numbers: OLIVIER-FAIVRE PHRC N 2012
Study First Received: July 17, 2013
Last Updated: July 22, 2013

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 processed this record on April 28, 2017