NIH Clinical Center logo     America's Clinical Research Hospital File folder iconExplore the NIH
Clinical Center
Search the Studies - NIH Clinical Research Studies

Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

99-C-0099

Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1
Max Age: 99

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Xeroderma Pigmentosum;
Trichothiodystrophy;
Cockayne Syndrome;
Skin Cancer;
DNA Repair

Recruitment Keyword(s)

None

Condition(s)

Cockayne Syndrome;
Skin Cancer;
Xeroderma Pigmentosum;
Trichothiodystrophy;
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

ELIGIBILITY CRITERIA:

Patients with XP, XP/CS, CS, or TTD of any age, gender, race or HIV status are eligible for this study. Patients will be sought by contacting professional organizations (such as the American Academy of Dermatology-XP Task Force), lay support groups (such as the XP Society and the Share and Care CS Support Network) or by direct referral.

INCLUSION CRITERIA:

On referral, patients will be considered for inclusion in the study:

If they have clinical documentation of typical features of XP, XP/CS, CS or TDD or;

If they have laboratory documentation of defective DNA repair, or;

If they have some suggestive clinical features and are willing to participate in the study.

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.

Sugasawa K, Ng JM, Masutani C, Iwai S, van der Spek PJ, Eker AP, Hanaoka F, Bootsma D, Hoeijmakers JH. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell. 1998 Aug;2(2):223-32.

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:

Kenneth H. Kraemer, M.D.
National Cancer Institute (NCI)
BG 37 RM 4002
37 CONVENT DR
BETHESDA MD 20814
(301) 496-9033
kraemerk@mail.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
(301) 594-5030
tamurad@mail.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--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

  • Details on how to participate in a study
  • Details on how to refer a patient to a study

NIH Clinical Studies Information Request


Contact the Office of Communications for:

  • General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml


Contact the Department Clinical Research Informatics, (DCRI) for:

  • Technical questions about Adobe Acrobat and the PDF format
  • Technical questions about this web server

webmaster@cc.nih.gov