NIH Clinical Center Search the Studies: Study Number, Study Title

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: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 6 wk
Max Age: N/A

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.

--Back to Top--

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.


--Back to Top--

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.

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Michael R. Sargen, M.D.
National Cancer Institute (NCI)
BG 9609 MEDICAL CENTER DRIVE RM 6E542
9609 MEDICAL CENTER DR.
ROCKVILLE MD 20850
(240) 276-7354
michael.sargen@nih.gov

Deborah E. Tamura, R.N.
National Cancer Institute (NCI)
National Institutes of Health
Building 37
Room 4002
37 Convent Drive
Bethesda, Maryland 20892
(240) 760-7355
dt220a@nih.gov

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
1-888-NCI-1937

Clinical Trials Number:

NCT00001813

--Back to Top--