Natural History Study for DNA Repair Disorders
Start Date
10/1/2022
Completion Date
12/31/2026
Summary
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).
Detailed Description
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). Our hypothesis is that a reliable and reproducible baseline natural history course can be established for DNA repair disorders using the Early Childhood Assessment of Balance (ECAB) as a primary endpoint and other measures as secondary and exploratory endpoints that may be used in future therapeutic clinical trials.
Eligibility Criteria
Age Range: No minimum to No maximum
Interventions
Interval History
Physical Examination
ECAB Assessment
Gait Assessment
Specimen Sample Collection
Conditions
Locations
University of Minnesota- Twin Cities
Minneapolis, Minnesota 55455
United States