Expanding NGS Data with Optical Genome Mapping (OGM)

Recruiting now · Not applicable

Conditions studied: Neurodevelopmental Disorder (Diagnosis)

In brief

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.

Key facts

Study ID

NCT06851377

Run by

IRCCS Eugenio Medea

People needed

60

Starts

2024-05-23

Expected to finish

2026-12-01

Last updated by the study team

2025-02-28

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• individuals who have not undergone initial diagnostic genetic tests (ES/CMA)

Where it is running

• Cytogenetic Unit of Medical Genetic Laboratory — Bosisio Parini, Lecco, Italy (enrolling)

Full record on ClinicalTrials.gov

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