Omic Approaches to Neurodevelopmental Disabilities

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

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Key information

Conditions

Neurodevelopmental Disorders Mental Disorders

Age range

4 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Scientific Institute IRCCS Eugenio Medea

Bosisio Parini, LC, 23842, Italy

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Patients with neurodevelopmental disorders carrying a genomic rearrangement identified through chromosomal microarray analysis (CMA)

Exclusion criteria

Treatment and study plan

WGS and transcriptome analysis

Diagnostic Test

In light of the inconsistencies between the CNV and the phenotypic outcome, we expect that WGS analysis will reveal that part of these CNVs have a more complex structure than the one disentangled by CMA and FISH. We hypothesize that CNV should reflect a perturbed genome folding configuration at several hierarchical levels of chromatin organization, such as disruption of TADs boundaries. To investigate this aspect, we plan to examine expression profiles of immortalized lymphoblastoid B-cell lines (LBLs) derived from normal controls and patients. We expect to find a subset of down- or up-regulated genes located inside the rearranged region which in turn may alter the expression of other genes, possibly leading to perturbation of disease-related pathways

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.

Sponsors and collaborators

Lead sponsor

IRCCS Eugenio Medea

Other

Registry information

Official study title

Omic Approaches to Characterize the Functional and Phenotypic Consequences of Rare Structural Genomic Variants in Neurodevelopmental Disabilities and Congenital Anomalies

Important dates

Study start: 2021
Primary completion: 2023
Study completion: 2023
First posted: Mar 29, 2024
Registry last updated: Mar 29, 2024

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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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Completed