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Expanding NGS Data with Optical Genome Mapping (OGM)

Study acronym: OGM
StatusRecruiting
PhaseNot applicable
Started
View on ClinicalTrials.gov ↗

Record History

  1. Study First Submitted
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.
Trial Details
NCT Number NCT06851377
Lead Sponsor IRCCS Eugenio Medea
Conditions
(from sponsor)		 Neurodevelopmental Disorder (Diagnosis)
Related terms Disease, Neurodevelopmental Disorders
Enrollment 60 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov