NCT06851377 Expanding NGS Data with Optical Genome Mapping (OGM)
| NCT ID | NCT06851377 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS Eugenio Medea |
| Condition | Neurodevelopmental Disorder (Diagnosis) |
| Study Type | INTERVENTIONAL |
| Enrollment | 60 participants |
| Start Date | 2024-05-23 |
| Primary Completion | 2026-12 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 60 participants in total. It began in 2024-05-23 with a primary completion date of 2026-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping. This is due to technical limitations, incomplete variant interpretation, and inadequate genotype-phenotype correlations. New sequencing technologies are crucial for clinical decision-making, offering complete profiles of variants in a patient's DNA to personalize treatment. Optical Genome Mapping (OGM) can detect nearly all structural variants in one experiment. This project aims to use OGM alongside NGS to improve diagnostic yield in 60 children with severe disorders who tested negative for NGS/CMA.
Eligibility 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)
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06851377 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, studying Neurodevelopmental Disorder (Diagnosis). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06851377 currently recruiting?
Yes, NCT06851377 is actively recruiting participants. Contact the research team at mariaclara.bonaglia@lanostrafamiglia.it for enrollment information.
Where is the NCT06851377 trial being conducted?
This trial is being conducted at Bosisio Parini, Italy.
Who is sponsoring the NCT06851377 clinical trial?
NCT06851377 is sponsored by IRCCS Eugenio Medea. The trial plans to enroll 60 participants.