Clinical and Molecular Study of CHARGE Syndrom
Not Applicable
Completed
- Conditions
- Inclusion on Clinical Criteria of the SyndromeDevelopment Abnormalies
- Interventions
- Genetic: Blodd punction for genetic analysis
- Registration Number
- NCT03186144
- Lead Sponsor
- Poitiers University Hospital
- Brief Summary
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
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 141
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 & Design
- Study Type
- INTERVENTIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description No arm : descriptive study Blodd punction for genetic analysis -
- Primary Outcome Measures
Name Time Method Description Clinical and molecular analysis of a French cohort CHARGE 12 month Execution of the socio-adaptive scale, parental scale 12 month Rate of mutations of CHD7 and / or type of mutations 12 month analysis CHD7 gene from the patient's DNA 12 month
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
French Referent centers for developement abnomalies
🇫🇷Poitiers, France