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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

33 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-02-10

Study Completion Date

2021-12-06

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Clinical and Genetic Studies on Holoprosencephaly

NCT00088426

Holoprosencephaly HPE Developmental Delay Disorders +1 more

COMPLETED

A Study of the Genetic Analysis of Brain Disorders

NCT00645645

Holoprosencephaly

COMPLETED

Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum

NCT03600792

Fetal Agenesis of the Corpus Callosum (ACC)

COMPLETED

Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes

NCT02512354

Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations

COMPLETED

Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping

NCT06880094

Orofacial Clefts Next Generation Sequencing (NGS) Optical Genome Mapping

RECRUITING NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Holoprosencephaly

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

NGS

next-generation sequencing on preexisting samples

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.