U.S., Feb. 10 -- ClinicalTrials.gov registry received information related to the study (NCT07396883) titled 'Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing' on Feb. 02.
Brief Summary: This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin. Currently, standard diagnostic tools-known as short-read genome sequencing-fail to provide a diagnosis for over 50% of affected patients because they cannot detect certain complex DNA abnormalities.
The purpose of this study is to evaluate the effectiveness of a newer, more advanced technology called Long-read Genome Sequencing (lrWGS). Unlike traditional methods, this technol...