U.S., June 27 -- ClinicalTrials.gov registry received information related to the study (NCT07670169) titled 'Effect of NOTCH2NLC Gene Variations on NIID Clinical Features' on June 01.
Brief Summary: This study aims to understand how differences in the NOTCH2NLC gene affect the symptoms and course of neuronal intranuclear inclusion disease (NIID), a rare inherited neurological disorder. NIID is caused by an abnormal expansion of a GGC DNA repeat in the NOTCH2NLC gene, but members of the same family can have very different repeat sizes and patterns, leading to a wide variety of problems-such as difficulties with memory, movement, sensation, or involuntary body functions. The main goal is to uncover how these genetic differences (repeat lengt...