Development Abnormalies Clinical Trial
— CHARGE| Verified date | June 2017 |
| Source | Poitiers University Hospital |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Interventional |
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
| Status | Completed |
| Enrollment | 141 |
| Est. completion date | December 2015 |
| Est. primary completion date | April 2015 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility |
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 |
| Country | Name | City | State |
|---|---|---|---|
| France | French Referent centers for developement abnomalies | Poitiers |
| Lead Sponsor | Collaborator |
|---|---|
| Poitiers University Hospital |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Description Clinical and molecular analysis of a French cohort CHARGE | 12 month | ||
| Primary | Execution of the socio-adaptive scale, parental scale | 12 month | ||
| Primary | Rate of mutations of CHD7 and / or type of mutations | 12 month | ||
| Primary | analysis CHD7 gene from the patient's DNA | 12 month |