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NCT Number: NCT04691414

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

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.

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Key information

Conditions

Holoprosencephaly Abnormalities, Multiple Agenesis of Corpus Callosum Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Genetic Diseases, Inborn Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Nervous System Malformations

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Rennes

Rennes, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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 criteria

  • adults subject to legal protection (safeguard of justice, curatorship, guardianship), persons deprived of liberty.

Treatment and study plan

NGS

Genetic

next-generation sequencing on preexisting samples

Primary outcomes

  1. Number of patients with an identified genetic abnormality

    Time frame: 6 months

    Number of patients with an identified genetic abnormality

Secondary outcomes

  1. Number of new genes identified

    Time frame: 6 months

    Number of new genes identified, and possible recurrence of variants in one or more new genes of interest.

  2. Pathogenic variants

    Time frame: 6 months

    Percentage of pathogenic variants identified in genes of the SHH pathway

  3. Modes of transmission of pathogenic variants

    Time frame: 6 months

    Percentage of variants identified according to the different modes of transmission (de novo, autosomal dominant, X-linked, autosomal recessive, oligogenism)

Sponsors and collaborators

Lead sponsor

Rennes University Hospital

Other

Registry information

Official study title

EXOMEDIANE - Retrospective Study Using High Throughput Sequencing (HTS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.

Acronym: EXOMEDIANE

Important dates

Study start
2021
Primary completion
2021
Study completion
2021
First posted
Dec 31, 2020
Registry last updated
Dec 7, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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