Status:
COMPLETED
Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
Lead Sponsor:
Rennes University Hospital
Conditions:
Holoprosencephaly
Eligibility:
All Genders
Brief Summary
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedg...
Eligibility Criteria
Inclusion
- Patients with Craniofacial Midline Facial Anomalies (CMFLA) collected for genetic analysis
- Patients and relatives for whom consent for research-related genetic testing is available. A "trio" - patient and both parents is required for analysis of variant segregation and determination of mode of transmission.
- For patients who are minors, parental authority(ies) who have given consent for research genetic testing.
- Affiliation to a social security scheme
- Patient and parents do not object to their participation in the research.
- In the case of a patient who has reached the age of majority since the initial consent was obtained, a patient who has given consent to proceed with genetic analyses for research purposes.
Exclusion
- adults subject to legal protection (safeguard of justice, curatorship, guardianship), persons deprived of liberty.
Key Trial Info
Start Date :
February 10 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 6 2021
Estimated Enrollment :
33 Patients enrolled
Trial Details
Trial ID
NCT04691414
Start Date
February 10 2021
End Date
December 6 2021
Last Update
December 7 2021
Active Locations (1)
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1
CHU Rennes
Rennes, France