Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
NA
60 participants
INTERVENTIONAL
2024-05-23
2026-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
DIAGNOSTIC
NONE
Study Groups
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Expanding NGS data with Optical Genome Mapping (OGM)
OGM will be used alongside WGS to improve diagnostics in 60 children with severe NDDs lacking a molecular diagnosis after initial CMA and exome analyses.
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.
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.
Interventions
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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.
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.
Eligibility Criteria
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Inclusion Criteria
* 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
2 Years
ALL
No
Sponsors
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IRCCS Eugenio Medea
OTHER
Responsible Party
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Locations
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Cytogenetic Unit of Medical Genetic Laboratory
Bosisio Parini, Lecco, Italy
Countries
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Central Contacts
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Facility Contacts
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Maria C Bonaglia, Master Degree
Role: primary
Other Identifiers
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1089
Identifier Type: -
Identifier Source: org_study_id
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