Clinical and Molecular Study of CHARGE Syndrom (CHARGE)
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ClinicalTrials.gov Identifier: NCT03186144 |
Recruitment Status :
Completed
First Posted : June 14, 2017
Last Update Posted : June 14, 2017
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- Clinical description of a French cohort of patients with CHARGE syndrome.
- Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome
- 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
Condition or disease | Intervention/treatment | Phase |
---|---|---|
Development Abnormalies Inclusion on Clinical Criteria of the Syndrome | Genetic: Blodd punction for genetic analysis | Not Applicable |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 141 participants |
Masking: | None (Open Label) |
Primary Purpose: | Diagnostic |
Actual Study Start Date : | February 2012 |
Actual Primary Completion Date : | April 2015 |
Actual Study Completion Date : | December 2015 |
Arm | Intervention/treatment |
---|---|
Experimental: No arm : descriptive study |
Genetic: Blodd punction for genetic analysis |
- 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 ]

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03186144
France | |
French Referent centers for developement abnomalies | |
Poitiers, France, 86000 |
Responsible Party: | Poitiers University Hospital |
ClinicalTrials.gov Identifier: | NCT03186144 |
Other Study ID Numbers: |
CHARGE |
First Posted: | June 14, 2017 Key Record Dates |
Last Update Posted: | June 14, 2017 |
Last Verified: | June 2017 |