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Expanding NGS Data with Optical Genome Mapping (OGM)

NCT06851377 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2025-02-28

No results posted yet for this 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.

Conditions

  • Neurodevelopmental Disorder (Diagnosis)

Interventions

GENETIC

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

After identifying causal SVs via OGM, WGS will determine rearrangement breakpoints and examine nearby genes within 100 kb that may have altered expression due to positional effects.

OTHER

Trascriptome analysis

Following genomic characterization results, transcriptome analysis will be performed on patient-derived lymphoblastoid B-cell lines or fibroblasts to investigate the molecular implications of candidate SVs found in the OGM analysis and identify potential transcriptome abnormalities, such as splicing variants, in patients with atypical clinical features.

Sponsors & Collaborators

  • IRCCS Eugenio Medea

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-05-23
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06851377 on ClinicalTrials.gov