Observational Natural History Study of DNA Repair Disorders Including Cockayne Syndrome, Xeroderma Pigmentosum, and Trichothiodystrophy

What this Trial Is About

Researchers are conducting a single-center, single-arm, non-interventional natural history study to observe the progression and clinical features of DNA repair disorders, including Cockayne syndrome, xeroderma pigmentosum, and trichothiodystrophy. The study aims to establish a reliable baseline course of these disorders, using the Early Childhood Assessment of Balance ECAB as the primary measurement and other functional and exploratory tests to support future therapeutic trials. Participants diagnosed with DNA repair disorders will undergo regular assessments including interval health history reviews, physical and neurological examinations by a neurologist, ECAB balance assessments, gait evaluations, and collection of blood and saliva samples. These assessments will be conducted over a three-year period to monitor changes in motor and neurological functions. Family members without the disorder will serve as control participants with fewer assessments. During the study, participants will be evaluated on motor function stability using tests like gait speed, the 10-meter walkrun, Timed Up and Go TUG, and Dynamic Gait Index DGI. Health status, cognitive and motor changes, and balance will be closely monitored. Blood and saliva samples will be collected with volume limits to support biomarker research. The total duration of involvement is approximately three years, with no intervention or treatment provided.

Natural History Study for DNA Repair Disorders