This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
Age range
6 Months
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Longitudinal stability of cerebellar and gait function on neurological examination
Timeframe: 3 years
Longitudinal stability of motor function using gait speed measurement
Timeframe: 3 years
Longitudinal stability of motor function using 10 meter walk/run test
Timeframe: 3 years
Longitudinal stability of motor function using Timed Up and Go (TUG) test
Timeframe: 3 years
Longitudinal stability of motor function using the Dynamic Gait Index (DGI)
Timeframe: 3 years