Clinical Trial: Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases

U.S., Oct. 21 -- ClinicalTrials.gov registry received information related to the study (NCT07884227) titled 'Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases' on Oct. 13.

Brief Summary: LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability. The study combines reanalysis of previously generated genetic data with additional molecular investigations, including functional validation of variants of uncertain significance, RNA sequencing, and DNA methylation profiling. The project also aims to develop a computational infrastructure to suppor...