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Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality

RecruitingNAAges any - anyAllCéline PEBREL-RICHARD
NCT07370792 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs). They may be associated with an intellectual disability (ID)1. Chromosomal analysis on Chromosomal Microarray Analysis (CMA) and gene panels or exome sequencing are the respective gold standard methods for chromosomal and molecular diagnosis of DD respectively2. In cases where no diagnosis is established after these first-line tests, short-read whole genome sequencing (WGS), via the Plan France Medicine Genomic 2020-2025 (AURAGEN), may be considered. This approach allows for diagnosis in nearly 40% of patients with DD3,4. However, many patients remain in diagnostic deadlock, likely due to the technical limitations of these methods, which potentially be overcome by emerging m

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📋 Eligibility rules (as published)
Inclusion Criteria * Patients presenting with at least two congenital anomalies, with or without intellectual disability, and weighing more than 5 kg. * Whole-genome sequencing performed by the AURAGEN laboratory deemed non-contributive (absence of class 4 or 5 variants, or identification of a VUS, or identification of only one variant in the context of a recessive disorder). * Patient covered by a social security scheme. * Patient able to understand and to oppose participation in the study. * Written informed consent for genetic analyses, signed either by the patient or by their legal representatives (for minors), after clear and fair information about the study has been provided. Non-Inclusion Criteria * Patients for whom a non-genetic cause (infectious, environmental, or toxic) has been previously identified. * Inability to obtain a compliant sample. * Patient or holder of parental authority under guardianship or legal protection, deprived of liberty, or placed under court-ordered protection.
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What it tests

  • blood sample
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Where

1 site
CHU clermont-Ferrand
Clermont-Ferrand, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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