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NCT Number: NCT06851377

Expanding NGS Data with Optical Genome Mapping (OGM)

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.

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Key information

Conditions

Neurodevelopmental Disorder (Diagnosis) Disease Mental Disorders Neurodevelopmental Disorders Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

2 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Cytogenetic Unit of Medical Genetic Laboratory

Bosisio Parini, Lecco, 23842, Italy

Location status: Recruiting

Location contact

Maria C Bonaglia, Master Degree

CONTACT

+39 031877913

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • individuals without a molecular diagnosis (negative to ES/CMA analyses);
  • individuals with genetic diagnoses that explain only one component of their primary phenotype;
  • individuals carrying one or more variants of uncertain clinical significance
  • individuals with a phenotype highly reminiscent of clinically and molecularly well-defined syndromes (i.e., Marfan Syndrome) but negative to routine molecular analysis.

Exclusion criteria

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

Treatment and study plan

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

Genetic

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.

Trascriptome analysis

Other

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.

Primary outcomes

  1. Genotype-phenotype correlation

    Time frame: once at recruitment

    Number of pathogenic structural variants found by OGM explaining the phenotype

Study contacts

Contact information is provided by the study sponsor or research team.

Maria Clara Bonaglia PhD

CONTACT

[email protected]

+39 031 877913

Sponsors and collaborators

Lead sponsor

IRCCS Eugenio Medea

Other

Registry information

Official study title

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

Acronym: OGM

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Feb 28, 2025
Registry last updated
Feb 28, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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