Actively Recruiting
Expanding NGS Data with Optical Genome Mapping (OGM)
Led by IRCCS Eugenio Medea · Updated on 2025-02-28
60
Participants Needed
1
Research Sites
131 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Expanding NGS Data with Optical Genome Mapping (OGM)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals without a molecular diagnosis after negative Exome Sequencing (ES) or Chromosomal Microarray Analysis (CMA)
- Individuals with genetic diagnoses explaining only one part of their primary symptoms
- Individuals carrying one or more genetic variants of uncertain clinical significance
- Individuals with symptoms similar to well-defined syndromes (e.g., Marfan Syndrome) but negative on routine molecular tests
You will not qualify if you...
- Individuals who have not undergone initial diagnostic genetic tests such as Exome Sequencing (ES) or Chromosomal Microarray Analysis (CMA)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Cytogenetic Unit of Medical Genetic Laboratory
Bosisio Parini, Lecco, Italy, 23842
Actively Recruiting
Research Team
M
Maria Clara Bonaglia PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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