Optical mapping to clarify chromosomal rearrangements in neurodevelopmental disorders
The Contribution of Optical Mapping to the Characterization of Chromosomal Rearrangements in Patients With Neurodevelopmental Disorders
This project will try Bionano optical mapping on children and young adults with neurodevelopmental disorders who have ambiguous microarray findings (duplications or complex rearrangements) to pinpoint the location and orientation of the changes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 105 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris, Paris) |
| Trial ID | NCT07133789 on ClinicalTrials.gov |
What this trial studies
This prospective, multicenter study will enroll about 35 patients aged 2–20 years with neurodevelopmental disorders who have a chromosomal anomaly of difficult interpretation on chromosomal microarray (ACPA). Blood samples will be collected from patients and their parents and analyzed using Bionano optical mapping to detect balanced and unbalanced rearrangements, precise breakpoints, and the orientation of duplications. Patients will be stratified by anomaly type to determine whether optical mapping clarifies gene disruption and potential loss of function. The approach is intended to overcome limitations of conventional techniques such as ACPA and FISH for interpreting complex CNVs.
Who should consider this trial
Good fit: Children and young adults (2–20 years) with neurodevelopmental disorders followed at Robert Debré who have a chromosomal microarray finding of a duplication or complex rearrangement that is difficult to interpret and who can provide blood samples along with their parents.
Not a fit: Patients without an ambiguous microarray-detected anomaly (for example clear pathogenic deletions or no CNV), those outside the 2–20 age range, or patients without medical insurance are unlikely to benefit from this project.
Why it matters
Potential benefit: If successful, this could improve genetic diagnoses by showing whether duplications or complex rearrangements disrupt genes, which may change clinical interpretation and genetic counseling.
How similar studies have performed: Prior reports using Bionano optical mapping have demonstrated utility in resolving complex structural variants and aiding interpretation, but its routine clinical application for neurodevelopmental disorder diagnostics is still emerging.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients: children aged 2 and over at the time of inclusion (and up to 20 years of age) * Patients followed at Robert Debré for TND who, as part of their care, * who have undergone chromosomal analysis by DNA microarray (ACPA) which has identified a chromosomal abnormality of difficult interpretation (duplication or complex rearrangement). Exclusion Criteria: * Patients without medical insurance
Where this trial is running
Paris, Paris
- Robert Debré Hospital — Paris, Paris, France (Recruiting)
Study contacts
- Study coordinator: Anne-Claude TABET, MD, PhD
- Email: anne-claude.tabet@aphp.fr
- Phone: +331 40 03 57 10
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.