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Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.

NCT04691414 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 33

Last updated 2021-12-07

No results posted yet for this study

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 Hedgehog SHH-D). It is characterized by severe cerebral and craniofacial abnormalities.

The regulation of SHH concentration is therefore crucial for correct craniofacial development.

Despite the recent identification of about 20 genes, 70% of cases of EHPE and craniofacial midline abnormalities of genetic origin do not have a molecular diagnosis. It is therefore important to continue the search for new candidate genes to improve the understanding of brain and facial development and to improve genetic counseling for these families.

The development of Next-Generation Sequencing (NGS) technologies opens up the possibility of studying the exome or even the genome in a single manipulation. The latter type of analysis is particularly well suited to the discovery of new genes and will therefore improve the care of patients and their families.

Conditions

  • Holoprosencephaly

Interventions

GENETIC

NGS

next-generation sequencing on preexisting samples

Sponsors & Collaborators

  • Rennes University Hospital

    lead OTHER

Principal Investigators

  • Alinoë LAVILLAUREIX · CHU Rennes

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-10
Primary Completion
2021-12-01
Completion
2021-12-06

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04691414 on ClinicalTrials.gov