Actively Recruiting
Natural History Study for DNA Repair Disorders
Led by University of Minnesota · Updated on 2025-09-19
40
Participants Needed
1
Research Sites
221 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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).
CONDITIONS
Official Title
Natural History Study for DNA Repair Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy based on genetic testing or key clinical characteristics
- Presence of one or more neurodevelopmental or neurological complications such as gross motor delay, language delay, altered muscle tone, gait difficulties, tremors, or microcephaly
- Family member of an individual with the above conditions
- No restrictions on current ambulatory status
- At least 6 months old at enrollment
- No restrictions on gender, race, or ethnicity
- Voluntary written consent from participant or parent/guardian if minor or incapable of consenting
- Written consent from legally authorized representative if adult lacks consent capacity
You will not qualify if you...
- Prior history of systemic gene or cell-based therapy
- Current participation in an interventional clinical trial
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Minnesota- Twin Cities
Minneapolis, Minnesota, United States, 55455
Actively Recruiting
Research Team
E
Erin Aguero
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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