Expanding NGS Data with Optical Genome Mapping (OGM)

Last updated: February 24, 2025
Sponsor: IRCCS Eugenio Medea
Overall Status: Active - Recruiting

Phase

N/A

Condition

Neuronal Ceroid Lipofuscinoses (Ncl)

Tic Disorders

Neurologic Disorders

Treatment

Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS)

Trascriptome analysis

Clinical Study ID

NCT06851377
1089
  • Ages > 2
  • All Genders

Study 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

Inclusion Criteria:

  • individuals without a molecular diagnosis (negative to ES/CMA analyses);

  • individuals with genetic diagnoses that explain only one component of their primaryphenotype;

  • individuals carrying one or more variants of uncertain clinical significance

  • individuals with a phenotype highly reminiscent of clinically and molecularlywell-defined syndromes (i.e., Marfan Syndrome) but negative to routine molecularanalysis.

Exclusion

Exclusion Criteria:

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

Study Design

Total Participants: 60
Treatment Group(s): 2
Primary Treatment: Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS)
Phase:
Study Start date:
May 23, 2024
Estimated Completion Date:
December 31, 2026

Connect with a study center

  • Cytogenetic Unit of Medical Genetic Laboratory

    Bosisio Parini, Lecco 23842
    Italy

    Active - Recruiting

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