Actively Recruiting
Natural History Study for DNA Repair Disorders including Cockayne Syndrome, Xeroderma Pigmentosum, and Trichothiodystrophy
Led by University of Minnesota · Updated on 2026-05-27
40
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
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 walk/run, 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.
CONDITIONS
Brief 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 clinical characteristics
- Presence of one or more neurodevelopmental or neurological issues such as gross motor delay, language delay, altered muscle tone, gait difficulties, tremors, or microcephaly
- Family member of an individual with one of these DNA repair disorders
- Minimum age of 6 months with no maximum age limit
- No restrictions on gender, race, or ethnicity
- Voluntary written consent from participant or parent/guardian
- Written consent from legally authorized representative if adult lacks capacity to consent
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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 3 years
Participants undergo detailed assessments including interval history, physical and neurological examinations, Early Clinical Assessment of Balance (ECAB), gait assessments for ambulatory individuals, and specimen sample collection to evaluate their clinical status and functional outcomes.
Periodic visits over the course of 3 years
Trial Site Locations
Total: 1 location
1
University of Minnesota- Twin Cities
Minneapolis, Minnesota, United States, 55455
Actively Recruiting
Research Team
S
Seth Stafki
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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