Using Optical Genome Mapping to Diagnose Neurodevelopmental Disorders
Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
This study is testing whether a new method called Optical Genome Mapping can help doctors better diagnose neurodevelopmental disorders by finding genetic changes that other tests might miss.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 58 (estimated) |
| Ages | 2 Years to 17 Years |
| Sex | All |
| Sponsor | IRCCS Eugenio Medea Academic / other |
| Locations | 1 site (Bosisio Parini, Lecco) |
| Trial ID | NCT06347562 on ClinicalTrials.gov |
What this trial studies
This study evaluates the effectiveness of Optical Genome Mapping (OGM) in detecting both simple and complex chromosomal abnormalities that are clinically relevant for diagnosing neurodevelopmental disorders. The approach aims to identify structural variants that have already been recognized through traditional diagnostic methods such as karyotyping and microarray analysis. By comparing the results from OGM with established techniques, the study seeks to enhance diagnostic accuracy for patients with neurodevelopmental disorders, including those with congenital anomalies.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with neurodevelopmental disorders who have a structural variant identified through standard cytogenetic analyses.
Not a fit: Patients without a structural variant identified by standard cytogenetic analyses may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate and timely diagnoses for patients with neurodevelopmental disorders.
How similar studies have performed: While the use of Optical Genome Mapping is a relatively novel approach, similar studies have shown promise in improving diagnostic capabilities for genetic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis) Exclusion Criteria: * none
Where this trial is running
Bosisio Parini, Lecco
- Scientific Institute E. Medea — Bosisio Parini, Lecco, Italy (Recruiting)
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.