Search / Trial NCT00001813

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

Launched by NATIONAL CANCER INSTITUTE (NCI) · Nov 3, 1999

Trial Information

Current as of November 03, 2024

Completed

Keywords

Xeroderma Pigmentosum Trichothiodystrophy Cockayne Syndrome Skin Cancer Dna Repair Natural History

Description

Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), 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, CS, TTD, or overlap syndromes to follow their clinical course. We will obtain tissue (skin, blood, hair, or buccal cells) for laboratory examination of DNA repair and for histologic, protein, biochemical, and genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to...

Gender

ALL

Eligibility criteria

  • * INCLUSION CRITERIA:
  • * Subjects age 6 weeks and above:
  • * with clinical and/or laboratory documentation of typical features or suggestive clinical features of XP, CS, TTD, or overlap syndromes or
  • * that are first degree relatives or other family members of participants with XP, CS, TTD, or overlap syndromes
  • * Healthy volunteers of age 1 year and above (including NIH employees) willing to donate blood, skin, buccal cells, or hair.
  • * Patients or legally authorized representatives must provide informed consent.
  • EXCLUSION CRITERIA:
  • -Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.

About National Cancer Institute (Nci)

The National Cancer Institute (NCI) is a prominent component of the National Institutes of Health (NIH), dedicated to advancing cancer research and improving patient outcomes through innovative clinical trials. As a leading sponsor of cancer-related studies, NCI focuses on facilitating the development of new therapies, enhancing prevention strategies, and understanding the biology of cancer. The institute collaborates with academic institutions, healthcare providers, and industry partners to conduct rigorous clinical trials that aim to translate scientific discoveries into effective treatments. NCI’s commitment to fostering a robust research environment supports the mission to eliminate cancer as a major health problem.

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

Rockville, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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