Clinical and Molecular Study of CHARGE Syndrom | NCT03186144

Studies
Clinical and Molecular Study of CHARGE Syndrom

NCT03186144

Sponsor

Poitiers University Hospital

Status

Completed

Last Update Posted

Jun 14, 2017Actual

Enrollment

141Actual

Phase

Not Applicable

Conditions

Development Abnormalies
Inclusion on Clinical Criteria of the Syndrome

Interventions

Blodd punction for genetic analysis

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2017

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2012Actual

Primary Completion Date

Apr 2015Actual

Completion Date

Dec 2015Actual

First Submitted Date

Aug 26, 2016

First Submission Date that Met QC Criteria

Jun 13, 2017

First Posted Date

Jun 14, 2017Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 13, 2017

Last Update Posted Date

Jun 14, 2017Actual

Description Module

Brief Summary

Clinical description of a French cohort of patients with CHARGE syndrome.
Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome
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

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

141Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
No arm : descriptive study	Experimental		Genetic: Blodd punction for genetic analysis

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Blodd punction for genetic analysis	Genetic		No arm : descriptive study

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Description Clinical and molecular analysis of a French cohort CHARGE		12 month
Execution of the socio-adaptive scale, parental scale		12 month
Rate of mutations of CHD7 and / or type of mutations		12 month
analysis CHD7 gene from the patient's DNA		12 month

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
French Referent centers for developement abnomalies		Poitiers		86000	France

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided