NCT05484570 Natural History Study for DNA Repair Disorders
| NCT ID | NCT05484570 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Minnesota |
| Condition | DNA Repair Disorder |
| Study Type | OBSERVATIONAL |
| Enrollment | 40 participants |
| Start Date | 2022-10-01 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 40 participants in total. It began in 2022-10-01 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
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
Contact & Investigator
Seth Stafki
✉ neurogenetics@umn.eduPeter Kang, MD
PRINCIPAL INVESTIGATOR
University of Minnesota
Frequently Asked Questions
Who can join the NCT05484570 clinical trial?
This trial is open to participants of all sexes, aged 6 Months or older, studying DNA Repair Disorder. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05484570 currently recruiting?
Yes, NCT05484570 is actively recruiting participants. Contact the research team at neurogenetics@umn.edu for enrollment information.
Where is the NCT05484570 trial being conducted?
This trial is being conducted at Minneapolis, United States.
Who is sponsoring the NCT05484570 clinical trial?
NCT05484570 is sponsored by University of Minnesota. The principal investigator is Peter Kang, MD at University of Minnesota. The trial plans to enroll 40 participants.