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Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Sponsor: National Cancer Institute (NCI)
Summary
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.
Key Details
Gender
All
Age Range
6 Weeks - 100 Years
Study Type
OBSERVATIONAL
Enrollment
709
Start Date
1999-05-10
Completion Date
Not specified
Last Updated
2026-05-07
Healthy Volunteers
No
Conditions
Locations (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, United States