Protocol Details

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

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	99-C-0099
Sponsoring Institute	National Cancer Institute (NCI)
Recruitment Detail	Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 6 wk Max Age: 100 Years
Referral Letter Required	No
Population Exclusion(s)	None
Keywords	Xeroderma Pigmentosum; Trichothiodystrophy; Cockayne Syndrome; Skin Cancer; DNA Repair; Natural History
Recruitment Keyword(s)	None
Condition(s)	Cockayne Syndrome; Skin Neoplasms; Xeroderma Pigmentosum; Trichothiodystrophy Syndromes; Genodermatosis
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Cancer Institute

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.

Eligibility

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.

Citations:

Barrett SF, Robbins JH, Tarone RE, Kraemer KH. Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells. Mutat Res. 1991 Nov;255(3):281-91.

Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology. 1989;31(3):276-7.

Contacts:

Clinical Trials Number:

NCT00001813