Clinical and Molecular Study of CHARGE Syndrom

Poitiers University Hospital

Status: Completed

Conditions: Inclusion on Clinical Criteria of the Syndrome; Development Abnormalies

Treatments: Genetic: Blodd punction for genetic analysis

Study type: Interventional

Funder types: Other

Identifiers

NCT03186144

CHARGE

Details and patient eligibility

About

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

Enrollment: 141 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

141 participants in 1 patient group

No arm : descriptive study

Experimental group

Treatment:

Genetic: Blodd punction for genetic analysis