Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

StatusCompleted
PhaseNot specified
Started

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  1. Re-verified, no change to tracked fields
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  4. New version filed on ClinicalTrials.gov
  5. 46 versions Re-verified since Feb 21, 2025, no change to tracked fieldsv292-v337
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.
Trial Details
NCT Number NCT00001813
Lead Sponsor National Cancer Institute (NCI)
Conditions
(from sponsor)		 Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes, Genodermatosis
Related terms Cockayne Syndrome, Skin Diseases, Genetic, Skin Neoplasms, Trichothiodystrophy Syndromes, Xeroderma Pigmentosum
Enrollment 709 participants
Start Date
Updated on ClinicalTrials.gov