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Clinical and Molecular Study of CHARGE Syndrom

NCT03186144 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 141

Last updated 2017-06-14

No results posted yet for this study

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

GENETIC

Blodd punction for genetic analysis

Sponsors & Collaborators

  • Poitiers University Hospital

    lead OTHER

Study Design

Purpose
DIAGNOSTIC
Masking
NONE

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-02-29
Primary Completion
2015-04-30
Completion
2015-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03186144 on ClinicalTrials.gov