Natural History Study for DNA Repair Disorders

Recruiting Observational Study
DNA Repair Disorder Cockayne Syndrome Xeroderma Pigmentosum Trichothiodystrophy
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
6 Months and older
Sex
Any
Study type
Observational
Participants needed
40 (estimated)
Sponsor
University of Minnesota · Other
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About This Trial

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).

Trial Locations
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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…
Contacts

Seth Stafki

neurogenetics@umn.edu

CONTACT