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Studies

Interventional Recruiting

NCT06851377 on ClinicalTrials.gov

Expanding NGS Data with Optical Genome Mapping (OGM)

Official title: Expanding NGS Data with Optical Genome Mapping (OGM): More Comprehensive Variant Detection in Children with Unexplained Rare Genetic Disorders

  • Sponsor: IRCCS Eugenio Medea
  • Enrollment: 60 (Estimated)
  • Study start: 2024-05-23 (Actual)
  • Primary completion: 2026-12-01 (Estimated)
  • Study completion: 2026-12-01 (Estimated)
  • Allocation: N/a
  • InterventionModel: Single Group
  • Masking: None
  • PrimaryPurpose: Diagnostic

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.

Conditions

  • Neurodevelopmental Disorder (Diagnosis)

Intervention / Treatment

  • Genetic: Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS)
  • Other: Trascriptome analysis

Primary Outcome Measures

  • Genotype-phenotype correlation (once at recruitment)
    Number of pathogenic structural variants found by OGM explaining the phenotype

Countries

Italy

Locations and Investigators