CompletedNot Applicable

Clinical and Molecular Study of CHARGE Syndrom

France141 participantsStarted 2012-02

Plain-language 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

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Description Clinical and molecular analysis of a French cohort CHARGE

Timeframe: 12 month

Execution of the socio-adaptive scale, parental scale

Timeframe: 12 month

Rate of mutations of CHD7 and / or type of mutations

Timeframe: 12 month

analysis CHD7 gene from the patient's DNA

Timeframe: 12 month

Trial details

NCT IDNCT03186144

SponsorPoitiers University Hospital

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2015-04

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