Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: blood withdrawal.
- Who it may be relevant to
- Registry conditions: Orofacial Clefts, Next Generation Sequencing (NGS), Optical Genome Mapping. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors. Chromosomal abnormalities, including structural variations, represent a major cause of human pathology. Recently, technological developments and the introduction of next-generation sequencing (NGS) technologies have revolutionized the field of medical genetics. Optical genome mapping (OGM) is an innovative, high-resolution "long read" technique that enables the identification of all classes of chromosomal variation, consisting in the direct visualization of long, labeled DNA molecules throughout the genome. This technology is gradually becoming an essential tool for studying onco-hematology and constitutional genetic pathologies The purpose of this study is to search for structural chromosomal variants (SV) or copy number variants (CNV) not identifiable either by cytogenetic methods nor by "short read" NGS "short read, in individuals with oral-facial clefts with no genetic diagnosis.
Interventions
- Genetic blood withdrawal
blood withdrawal for genetic testing
Primary outcome measures
- Identification of a structural chromosomal variant [Time frame: 2 years]
Eligibility criteria
Inclusion criteria
- Individuals with syndromic, complex or familial oral-facial clefts
- With no established genetic diagnosis
- Followed up at the Amiens-Picardie University Hospital
Exclusion criteria
- genetic diagnosis of oral-facial cleft
- No health insurance affiliation
- Patient under guardianship or curatorship, under safeguard of justice or deprived under public law
- Pregnant, parturient or breast-feeding woman
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Other
Study locations
France · 1 center
- CHRU Amiens — Amiens
Identifiers
NCT: NCT06880094 · PI2023_843_0023