Using advanced genome mapping to improve diagnosis of neurodevelopmental disorders
Expanding NGS Data with Optical Genome Mapping (OGM): More Comprehensive Variant Detection in Children with Unexplained Rare Genetic Disorders
This study is testing a new way to look at genes in children with severe neurodevelopmental disorders to see if it can help find answers when standard tests haven't worked.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 60 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | IRCCS Eugenio Medea Academic / other |
| Locations | 1 site (Bosisio Parini, Lecco) |
| Trial ID | NCT06851377 on ClinicalTrials.gov |
What this trial studies
This study aims to enhance the diagnostic yield for pediatric neurodevelopmental disorders by utilizing Optical Genome Mapping (OGM) in conjunction with Next-Generation Sequencing (NGS). It focuses on children who have previously tested negative for standard genetic tests, offering a more comprehensive analysis of their genetic variants. By detecting structural variants that traditional methods may miss, the study seeks to provide clearer insights into the genetic underpinnings of these disorders. The project will involve 60 children with severe neurodevelopmental conditions to assess the effectiveness of this combined approach.
Who should consider this trial
Good fit: Ideal candidates include children with severe neurodevelopmental disorders who have not received a molecular diagnosis from standard genetic testing.
Not a fit: Patients who have already undergone comprehensive genetic testing and received a definitive diagnosis are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved molecular diagnoses for children with neurodevelopmental disorders, enabling more personalized treatment options.
How similar studies have performed: While the use of Optical Genome Mapping is a relatively novel approach, similar studies have shown promise in improving genetic diagnostics in other conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * individuals without a molecular diagnosis (negative to ES/CMA analyses); * individuals with genetic diagnoses that explain only one component of their primary phenotype; * individuals carrying one or more variants of uncertain clinical significance * individuals with a phenotype highly reminiscent of clinically and molecularly well-defined syndromes (i.e., Marfan Syndrome) but negative to routine molecular analysis. Exclusion Criteria: * individuals who have not undergone initial diagnostic genetic tests (ES/CMA)
Where this trial is running
Bosisio Parini, Lecco
- Cytogenetic Unit of Medical Genetic Laboratory — Bosisio Parini, Lecco, Italy (Recruiting)
Study contacts
- Study coordinator: Maria Clara Bonaglia PhD
- Email: mariaclara.bonaglia@lanostrafamiglia.it
- Phone: +39 031 877913
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.