Omic Approaches to Characterize the Functional and Phenotypic Consequences of Rare Structural Genomic Variants in Neurodevelopmental Disabilities and Congenital Anomalies
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 22
- Locations
- 2
- Primary Endpoint
- Number of likely pathogenic structural variants
Study Overview
Brief Summary
to bridge the gap between the molecular structure of CNV and the effect on the phenotype, considering NDDs as complex diseases, as they are a consequence of the imbalance in several dosage-sensitive genes, we might try to approach them through different --omics investigations (genomics, epigenomics, transcriptomics) according to the emerging field of network medicine. This holistic can provide valuable insight into understanding peculiar molecular mechanisms and unsuspected molecular interactions that contribute to the pathogenesis of the condition and possibly pave the way for uncovering new drug strategies that even if they do not heal the patient may improve his performance and the social interaction
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Diagnostic
- Masking
- None
Eligibility Criteria
- Ages
- 4 Years to 18 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Patients with neurodevelopmental disorders carrying a genomic rearrangement identified through chromosomal microarray analysis (CMA)
Exclusion Criteria
- Not provided
Arms & Interventions
Whole Genome Sequencing (WGS) and transcriptome analysis
to investigate by WGS analysis the genome of selected patients with a detailed clinical characterization. WGS will be also performed on the DNA of the parent from which originated the CNV to look for any potential genomic signatures predisposing to the rearrangement detected in his/her son/daughter.
to investigate the expression profiles of structural variants by transcriptome analysis
Intervention: WGS and transcriptome analysis (Diagnostic Test)
Outcomes
Primary Outcomes
Number of likely pathogenic structural variants
Time Frame: once at recruitment
Number of likely pathogenic structural variants found by whole genome sequencing and transcriptome analysis.
Number of patients for whom a genotype-phenotype correlation is found
Time Frame: once at recruitment
Number of patients for whom a genotype-phenotype correlation is found based on results of whole genome sequencing and transcriptome analysis.
Secondary Outcomes
No secondary outcomes reported