Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. (EXOMEDIANE)
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| ClinicalTrials.gov Identifier: NCT04691414 |
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Recruitment Status :
Completed
First Posted : December 31, 2020
Last Update Posted : December 7, 2021
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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.
| Condition or disease | Intervention/treatment |
|---|---|
| Holoprosencephaly | Genetic: NGS |
| Study Type : | Observational |
| Actual Enrollment : | 33 participants |
| Observational Model: | Cohort |
| Time Perspective: | Retrospective |
| Official Title: | EXOMEDIANE - Retrospective Study Using High Throughput Sequencing (HTS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. |
| Actual Study Start Date : | February 10, 2021 |
| Actual Primary Completion Date : | December 1, 2021 |
| Actual Study Completion Date : | December 6, 2021 |
- Genetic: NGS
next-generation sequencing on preexisting samples
- Number of patients with an identified genetic abnormality [ Time Frame: 6 months ]Number of patients with an identified genetic abnormality
- 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.
- Pathogenic variants [ Time Frame: 6 months ]Percentage of pathogenic variants identified in genes of the SHH pathway
- 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)
Biospecimen Retention: Samples With DNA
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| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04691414
| France | |
| CHU Rennes | |
| Rennes, France | |
| Principal Investigator: | Alinoë LAVILLAUREIX | CHU Rennes |
| Responsible Party: | Rennes University Hospital |
| ClinicalTrials.gov Identifier: | NCT04691414 |
| Other Study ID Numbers: |
35RC20_8894_EXOMEDIANE |
| First Posted: | December 31, 2020 Key Record Dates |
| Last Update Posted: | December 7, 2021 |
| Last Verified: | December 2021 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Holoprosencephaly Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Agenesis of Corpus Callosum Nervous System Malformations |
Nervous System Diseases Abnormalities, Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn |