Optical genome mapping to find genetic causes of multiple congenital anomalies with or without intellectual disability
Official title: CARTOGEN-N_Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality Detected by Whole Genome Sequencing
Run by University Hospital, Clermont-Ferrand · NCT07370792 · Data updated 2026-11-12
This project will try optical genome mapping to detect structural genetic changes in people with multiple congenital anomalies (with or without intellectual disability) when prior whole-genome sequencing did not give an answer.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 55 (estimated) |
| Sponsor | University Hospital, Clermont-Ferrand Academic / other |
| Locations | 1 site (Clermont-Ferrand) |
| Status | Recruiting |
| Started | November 18, 2025 |
| Main results expected | November 18, 2029 |
| Study ends | November 18, 2029 |
| Registry record updated | November 4, 2026 |
| Trial ID | NCT07370792 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People with at least two congenital anomalies (with or without intellectual disability), weighing more than 5 kg, who have had non-contributive whole-genome sequencing and can give informed consent (or whose guardians can).
✕Probably not a fit
Patients with a previously identified non-genetic cause (infectious, environmental, or toxic), those unable to provide a usable blood sample, or those whose condition is due to single-nucleotide changes already identified are unlikely to benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Patients who have at least two congenital anomalies and a non-contributive short-read whole-genome sequencing result will be invited to provide blood for optical genome mapping and related cytogenetic work-up. Samples will be pseudonymized, processed for long-fragment DNA extraction and, when available, cultured lymphocytes to obtain chromosomal pellets for comparison. The laboratory will search for structural variants and other genomic rearrangements that short-read sequencing or microarray may have missed. Findings will be compared with prior genetic results to determine whether optical genome mapping yields additional diagnostic information.
Why it matters
Potential benefit: If successful, this could provide a genetic diagnosis for patients who remain unexplained after standard testing, ending part of the diagnostic odyssey and informing care and family planning.
How similar studies have gone: Previous reports indicate optical genome mapping can detect structural variants missed by short-read genomic methods, but its added diagnostic yield in this specific population is still being defined.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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CHU clermont-Ferrand
Clermont-Ferrand, France Recruiting
Study contacts
- Study coordinator: Lise Laclautre
- Email: promo_interne_drci@chu-clermontferrand.fr
- Phone: +33473754963
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.