Clinical and Molecular Study of CHARGE Syndrom

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

141 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-02-29

Study Completion Date

2015-12-31

Brief Summary

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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

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Detailed Description

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Conditions

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Development Abnormalies Inclusion on Clinical Criteria of the Syndrome

Study Design

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Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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No arm : descriptive study

Group Type EXPERIMENTAL

Blodd punction for genetic analysis

Intervention Type GENETIC

Interventions

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Blodd punction for genetic analysis

Intervention Type GENETIC

Eligibility Criteria

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Inclusion 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