Observing the natural history of DNA repair disorders
Official title: Natural History Study for DNA Repair Disorders
Run by University of Minnesota · NCT05484570 · Data updated 2026-11-12
This study is trying to understand how DNA repair disorders like Cockayne syndrome, xeroderma pigmentosum, and trichothiodystrophy affect people over time and what their long-term outcomes are.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 6 Months and up |
| Sex | All |
| Enrollment | 40 (estimated) |
| Sponsor | University of Minnesota Academic / other |
| Locations | 1 site (Minneapolis, Minnesota) |
| Status | Recruiting |
| Started | October 1, 2022 |
| Main results expected | December 31, 2026 |
| Study ends | December 31, 2026 |
| Registry record updated | May 27, 2026 |
| Trial ID | NCT05484570 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy, particularly those exhibiting neurodevelopmental or neurological complications.
✕Probably not a fit
Patients without a diagnosis of the specified DNA repair disorders or those who do not exhibit relevant complications may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to evaluate the long-term clinical course and functional outcomes of individuals with DNA repair disorders, specifically Cockayne syndrome, xeroderma pigmentosum, and trichothiodystrophy. It will utilize assessments such as the Early Childhood Assessment of Balance (ECAB) and other measures to establish a reliable baseline for these conditions. The study will involve physical examinations, interval histories, gait assessments, and specimen sample collections to gather comprehensive data on affected individuals.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression and management of DNA repair disorders, potentially guiding future therapeutic interventions.
How similar studies have gone: While this approach is observational and may build on existing knowledge, the specific focus on establishing a natural history for these rare disorders is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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University of Minnesota- Twin Cities
Minneapolis, Minnesota, United States Recruiting
Study contacts
- Principal investigator: Peter Kang, MD — University of Minnesota
- Study coordinator: Seth Stafki
- Email: neurogenetics@umn.edu
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.