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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
Sponsor:
Information provided by (Responsible Party):
Poitiers University Hospital

Study Description
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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 Not Applicable

Study Design
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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
Arms and Interventions
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Arm Intervention/treatment
Experimental: No arm : descriptive study Genetic: Blodd punction for genetic analysis


Outcome Measures
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Primary Outcome Measures :
  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 ]

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

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
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Information from the National Library of Medicine

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


Locations
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France
French Referent centers for developement abnomalies
Poitiers, France, 86000
Sponsors and Collaborators
Poitiers University Hospital
More Information
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Responsible Party: Poitiers University Hospital
ClinicalTrials.gov Identifier: NCT03186144     History of Changes
Other Study ID Numbers: CHARGE
First Posted: June 14, 2017    Key Record Dates
Last Update Posted: June 14, 2017
Last Verified: June 2017