Clinical and Molecular Study of CHARGE Syndrom (CHARGE)

June 13, 2017 updated by: Poitiers University Hospital
  1. Clinical description of a French cohort of patients with CHARGE syndrome.
  2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome
  3. Using Next generation Sequencing, try to identify other genes involved in this syndrome, as the CHD7 gene is involved in only 40-60% of cases

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

141

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Poitiers, France, 86000
        • French Referent centers for developement abnomalies

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria: Clinical criteria

Major criteria:

  • Ocular coloboma
  • Chonamal atresia and/or cleft palate
  • Semi-CircularCanals hypoplasia

Minor criteria:

  • Cranial nerves
  • Hypothalamic-pituitary deficiency
  • Internal or external ear malformation
  • Cardiac, esophageal malformations
  • Intellectual Deficiency

Diagnosis criteria:

  • Typical CHARGE: 3 major criteria or 2 major + 2 minor
  • Partial CHARGE: 2 major + 1 minor
  • Atypical CHARGE: 2 major without minor or 1 major + 2 minor

Exclusion Criteria:

  • Absent consentment for genetic analysis

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: No arm : descriptive study
Genetic: Blodd punction for genetic analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Description Clinical and molecular analysis of a French cohort CHARGE
Time Frame: 12 month
12 month
Execution of the socio-adaptive scale, parental scale
Time Frame: 12 month
12 month
Rate of mutations of CHD7 and / or type of mutations
Time Frame: 12 month
12 month
analysis CHD7 gene from the patient's DNA
Time Frame: 12 month
12 month

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Poitiers University Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2012

Primary Completion (Actual)

April 1, 2015

Study Completion (Actual)

December 1, 2015

Study Registration Dates

First Submitted

August 26, 2016

First Submitted That Met QC Criteria

June 13, 2017

First Posted (Actual)

June 14, 2017

Study Record Updates

Last Update Posted (Actual)

June 14, 2017

Last Update Submitted That Met QC Criteria

June 13, 2017

Last Verified

June 1, 2017

More Information

Terms related to this study

Other Study ID Numbers

  • CHARGE

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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