StudyFinder
Natural History Study for DNA Repair Disorders
Status: Recruiting
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).
Age: Not specified
Healthy Volunteers:
Inclusion Criteria:
• at least 6 months old
• diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics
• have one or more of the neurodevelopmental or neurological complications such as gross motor delay, language delay, altered muscle tone (study staff will review)
• family member of an individual with the above condition
Exclusion Criteria:
• prior history of systemic gene or cell-based therapy
• participation in a clinical trial for treatment
Interventions:
Other: ECAB Assessment, Other: Gait Assessment, Other: Interval History, Other: Physical Examination, Other: Specimen Sample Collection
Conditions:
Rare Diseases
Keywords:
Cockayne Syndrome, DNA Repair Disorder, Trichothiodystrophy, Xeroderma Pigmentosum
Contact(s): Erin Aguero - aguer008@umn.edu
Principal Investigator: Peter Kang
IRB Number: STUDY00015911
System ID: 38563
See this study on ClinicalTrials.gov