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Clinical Trials/NL-OMON34693
NL-OMON34693
Completed
Not Applicable

Recognition of congenital heart defects caused by CHD7 gene mutations - CHD and CHD7

niversitair Medisch Centrum Groningen0 sites50 target enrollmentTBD

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
congenital heart defects
Sponsor
niversitair Medisch Centrum Groningen
Enrollment
50
Status
Completed
Last Updated
last year

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
TBD
End Date
TBD
Last Updated
last year
Study Type
Observational invasive

Investigators

Eligibility Criteria

Inclusion Criteria

  • Patients already available at the department of Genetics of the UMCG or a cohort of children with CHD of the department of Paediatric Cardiology of the RUNMC who
  • 1\.have a congenital heart defect that fits the spectrum of congenital heart defects found in patients with a CHD7\-mutation.
  • 2\.have at least one other feature of CHARGE syndrome
  • 3\.do not have another known cause of their congenital heart defect

Exclusion Criteria

  • \- Patients with an already identified (genetic) cause of their congenital heart defect.
  • \- Patients who do not want to be informed about the result of the CHD7 analysis

Outcomes

Primary Outcomes

Not specified

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