Clinical and Molecular Study of CHARGE Syndrom

• Sponsor: Poitiers University Hospital (Other)
• Overall Status: Completed
• CT.gov ID: NCT03186144
• Collaborator: (none)
• Enrollment: 141
• Location: 1
• Arm: 1
• Actual Duration (Months): 46
• Patients Per Site Per Month: 3.1

Study Details

Study Description

Brief Summary

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

Condition or Disease	Intervention/Treatment	Phase
Development Abnormalies; Inclusion on Clinical Criteria of the Syndrome	Genetic: Blodd punction for genetic analysis	N/A

Study Design

• Study Type: Interventional
• Actual Enrollment: 141 participants
• Masking: None (Open Label)
• Primary Purpose: Diagnostic
• Actual Study Start Date: Feb 1, 2012
• Actual Primary Completion Date: Apr 1, 2015
• Actual Study Completion Date: Dec 1, 2015

Arms and Interventions

Arm	Intervention/Treatment
Experimental: No arm : descriptive study	Genetic: Blodd punction for genetic analysis

Outcome Measures

Primary Outcome Measures

1. Description Clinical and molecular analysis of a French cohort CHARGE [12 month]

2. Execution of the socio-adaptive scale, parental scale [12 month]

3. Rate of mutations of CHD7 and / or type of mutations [12 month]

4. analysis CHD7 gene from the patient's DNA [12 month]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	French Referent centers for developement abnomalies	Poitiers		France	86000

Sponsors and Collaborators

• Poitiers University Hospital

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Poitiers University Hospital
• ClinicalTrials.gov Identifier: NCT03186144
• Other Study ID Numbers: CHARGE
• First Posted: Jun 14, 2017
• Last Update Posted: Jun 14, 2017
• Last Verified: Jun 1, 2017

Study Results

No Results Posted as of Jun 14, 2017