NCT05484570Recruiting
Natural History Study for DNA Repair Disorders
Source: ClinicalTrials.gov · Last updated 27 May 2026
Brief summary (registry, in English)
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).
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 40 (estimated)
- First submitted
- 12 Jul 2022
- Start date
- 1 Oct 2022
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- University of Minnesota
- NCT number
- NCT05484570
What you commit to
- Study type: Observational
- Planned participants: 40
- From 1 Oct 2022 to the primary completion date, 31 Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Any prior history of systemic gene or cell-based therapy
Other
- Current participation in an interventional clinical trial
Who the study is looking for
- 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
Age in the registry: 6 months to - · Sex: All
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University of Minnesota- Twin Cities Coordinator of this site? Confirm its status | Minneapolis | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.