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OpenTrials
Completed

NCT Number: NCT03186144

Clinical and Molecular Study of CHARGE Syndrom

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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Key information

Conditions

Development Abnormalies Inclusion on Clinical Criteria of the Syndrome

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

French Referent centers for developement abnomalies

Poitiers, 86000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blodd punction for genetic analysis

Genetic

Primary outcomes

  1. Description Clinical and molecular analysis of a French cohort CHARGE

    Time frame: 12 month

  2. Execution of the socio-adaptive scale, parental scale

    Time frame: 12 month

  3. Rate of mutations of CHD7 and / or type of mutations

    Time frame: 12 month

  4. analysis CHD7 gene from the patient's DNA

    Time frame: 12 month

Sponsors and collaborators

Lead sponsor

Poitiers University Hospital

Other

Registry information

Acronym: CHARGE

Important dates

Study start
2012
Primary completion
2015
Study completion
2015
First posted
Jun 14, 2017
Registry last updated
Jun 14, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.