NCT03186144

Clinical and Molecular Study of CHARGE Syndrom

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 141 (actual)
• Sponsor: Poitiers University Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Conditions

• Development Abnormalies
• Inclusion on Clinical Criteria of the Syndrome

Interventions

Type	Name	Description
GENETIC	Blodd punction for genetic analysis

Timeline

• Start date: 2012-02-01
• Primary completion: 2015-04-01
• Completion: 2015-12-01
• First posted: 2017-06-14
• Last updated: 2017-06-14

Locations

1 site across 1 country: France