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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

Tracking Information
First Submitted Date  ICMJE August 26, 2016
First Posted Date  ICMJE June 14, 2017
Last Update Posted Date June 14, 2017
Actual Study Start Date  ICMJE February 2012
Actual Primary Completion Date April 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: June 13, 2017)
  • Description Clinical and molecular analysis of a French cohort CHARGE [ Time Frame: 12 month ]
  • Execution of the socio-adaptive scale, parental scale [ Time Frame: 12 month ]
  • Rate of mutations of CHD7 and / or type of mutations [ Time Frame: 12 month ]
  • analysis CHD7 gene from the patient's DNA [ Time Frame: 12 month ]
Original Primary Outcome Measures  ICMJE Same as current
Change History No Changes Posted
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Clinical and Molecular Study of CHARGE Syndrom
Official Title  ICMJE Not Provided
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
Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE
  • Development Abnormalies
  • Inclusion on Clinical Criteria of the Syndrome
Intervention  ICMJE Genetic: Blodd punction for genetic analysis
Study Arms  ICMJE Experimental: No arm : descriptive study
Intervention: Genetic: Blodd punction for genetic analysis
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: June 13, 2017)
141
Original Actual Enrollment  ICMJE Same as current
Actual Study Completion Date  ICMJE December 2015
Actual Primary Completion Date April 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE Child, Adult, Older Adult
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03186144
Other Study ID Numbers  ICMJE CHARGE
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Poitiers University Hospital
Study Sponsor  ICMJE Poitiers University Hospital
Collaborators  ICMJE Not Provided
Investigators  ICMJE Not Provided
PRS Account Poitiers University Hospital
Verification Date June 2017

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP