Status:
RECRUITING
Natural History Study for DNA Repair Disorders
Lead Sponsor:
University of Minnesota
Conditions:
DNA Repair Disorder
Cockayne Syndrome
Eligibility:
All Genders
6+ years
Brief 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 w...
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 w...
Eligibility Criteria
Inclusion Criteria:
- 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)
- Altered muscle tone (hypertonia, dystonia, hypotonia)
- Gait difficulties, including stiff gait, short stride, frequent falls, use of orthotics, use of walker
- Tremors
- Microcephaly
- Is a family member of an individual with the above condition
- No restrictions regarding current ambulatory status
- Minimum age for enrollment eligibility will be 6 months due to fragility of neonates with severe forms of DNA repair disorders and limitations of motor assessment scales in infants younger than 6 months. There will be no maximum age for enrollment eligibility.
- No restrictions regarding gender, race, or ethnicity.
- Voluntary written consent from the participant if adult capable of consenting or parent/guardian if minor or not capable of consenting
- Written consent of Legally Authorized Representative if enrolling adult lacks capacity to consent
Exclusion Criteria:
- Any prior history of systemic gene or cell-based therapy
- Current participation in an interventional clinical trial
Key Trial Info
Start Date :
October 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2026
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT05484570
Start Date
October 1 2022
End Date
December 31 2026
Last Update
September 19 2025
Active Locations (1)
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1
University of Minnesota- Twin Cities
Minneapolis, Minnesota, United States, 55455