Omic Approaches to Neurodevelopmental Disabilities

Neurodevelopmental Disorders Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT06337396
• Other study ID #: 1001
• Status: Completed
• Phase: N/A
• Start date: May 5, 2021
• Est. completion date: December 31, 2023

Study information

• Verified date: March 2024
• Source: IRCCS Eugenio Medea
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 22
• Est. completion date: December 31, 2023
• Est. primary completion date: July 28, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Years to 18 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

NA

Related Conditions & MeSH terms

• Neurodevelopmental Disorders

Intervention

Diagnostic Test:
• WGS and transcriptome analysis
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

Locations

Country	Name	City	State
Italy	Scientific Institute IRCCS Eugenio Medea	Bosisio Parini	LC

Sponsors (1)

Lead Sponsor	Collaborator
IRCCS Eugenio Medea

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of likely pathogenic structural variants	Number of likely pathogenic structural variants found by whole genome sequencing and transcriptome analysis.	once at recruitment
Primary	Number of patients for whom a genotype-phenotype correlation is found	Number of patients for whom a genotype-phenotype correlation is found based on results of whole genome sequencing and transcriptome analysis.	once at recruitment