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

  • STATUS
    Recruiting
  • participants needed
    750
  • sponsor
    National Cancer Institute (NCI)
Updated on 19 September 2022
cancer
cancer prevention
Accepts healthy volunteers

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.

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 better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.

Details
Condition Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy, Genodermatosis
Clinical Study IdentifierNCT00001813
SponsorNational Cancer Institute (NCI)
Last Modified on19 September 2022

Eligibility

Yes No Not Sure

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
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