Clinical and Molecular Study of CHARGE Syndrom

Poitiers University Hospital141 enrolled

Overview

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 Type

INTERVENTIONAL

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

141

Conditions

Development Abnormalies Inclusion on Clinical Criteria of the Syndrome

Interventions

Blodd punction for genetic analysisGENETIC

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

French Referent centers for developement abnomalies

Poitiers, France

Outcomes

Primary Outcomes

Description Clinical and molecular analysis of a French cohort CHARGE

Time frame: 12 month

Execution of the socio-adaptive scale, parental scale

Time frame: 12 month

Rate of mutations of CHD7 and / or type of mutations

Time frame: 12 month

analysis CHD7 gene from the patient's DNA

Time frame: 12 month

Data from ClinicalTrials.gov

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