Natural History Study for DNA Repair Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age6+
SponsorUniversity of Minnesota
About this trial
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).
Eligibility criteria
Qualifiers
Diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics l characteristics
Has one or more of the following neurodevelopmental or neurological complications
Gross motor delay (non-ambulatory or started walking after age 18 months)
Language delay (non-verbal or started talking after 18 months)
Disqualifiers
Any prior history of systemic gene or cell-based therapy
Current participation in an interventional clinical trial
Trial design
Treatments tested in this trial
- Interval History
- Physical Examination
- ECAB Assessment
- Gait Assessment
- Specimen Sample Collection
Treatment groups
40 Participants
are divided into 2 treatment groupsLocations
1University of Minnesota- Twin Cities55455, MinneapolisMinnesota, United States
Sponsors and collaborators
University of Minnesota
Lead sponsor
Source ClinicalTrials.gov