Cancer Risk in Individuals Who Have a Xeroderma Pigmentosum Gene Alteration Compared With Those Who Don't - Tabular View

Tracking Information

First Received Date ^ICMJE

November 12, 2002

Last Updated Date

June 16, 2009

Start Date ^ICMJE

August 2002

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00049621 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Cancer Risk in Individuals Who Have a Xeroderma Pigmentosum Gene Alteration Compared With Those Who Don't

Official Title ^ICMJE

Cancer Risk In Xeroderma Pigmentosum Heterozygotes

Brief Summary

RATIONALE: Screening individuals who have a xeroderma pigmentosum gene alteration may help doctors identify persons at risk of developing cancer and identify other cancer genes.

PURPOSE: This clinical trial is comparing cancer risk in individuals who have a xeroderma pigmentosum gene alteration to those who don't.

Detailed Description

OBJECTIVES:

Compare risk of developing any type of cancer in participants who are heterozygous carriers of xeroderma pigmentosum (XP) disease gene mutations vs non-carrier blood relatives or spouses.
Compare risk of developing skin cancers or cancers of the nervous system in these participants.
Compare cancer risk in different groups among heterozygous carriers of XP disease gene mutations.
Compare cancer risk in carriers of different XP disease gene mutations with heterozygous carriers of these gene mutations.

OUTLINE: Participants undergo general cancer screening comprising a medical history and physical examination, including a skin and neurologic examination. Laboratory samples are collected for review.

Participants are followed annually by telephone or mail to determine clinical status.

PROJECTED ACCRUAL: Approximately 800 participants (400 heterozygous carriers and 400 non-carrier blood relatives or spouses) will be accrued for this study.

Study Phase

Study Type ^ICMJE

Interventional

Study Design ^ICMJE

Screening, Open Label

Condition ^ICMJE

Unspecified Adult Solid Tumor, Protocol Specific
Unspecified Childhood Solid Tumor, Protocol Specific

Intervention ^ICMJE

Other: physiologic testing
Procedure: mutation carrier screening
Procedure: study of high risk factors

Study Arms / Comparison Groups

Publications *

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. Carcinogenesis. 2006 Jan;27(1):84-94. Epub 2005 Aug 4.

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Estimated Enrollment ^ICMJE

800

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

DISEASE CHARACTERISTICS:

One of the following:
- Blood relative of a patient diagnosed with xeroderma pigmentosum (XP)
- Spouse of a blood relative of a patient with XP
- Spouse of a patient with XP
- Family member of patient with clinical documentation of features of XP and laboratory determination of DNA repair defect
Evaluation of proband at the Warren Grant Magnuson Clinical Center or newly diagnosed on other approved protocols (e.g., NCI-99-C-0099)

PATIENT CHARACTERISTICS:

Age

Any age

Performance status

Not specified

Life expectancy

Not specified

Hematopoietic

Not specified

Hepatic

Not specified

Renal

Not specified

Other

Able and willing to provide family history information
Able and willing to provide tissue (skin, blood, buccal cells, or hair) for laboratory studies

PRIOR CONCURRENT THERAPY:

Biologic therapy

Not specified

Chemotherapy

Not specified

Endocrine therapy

Not specified

Radiotherapy

Not specified

Surgery

Not specified

Gender

Both

Ages

Accepts Healthy Volunteers

Contacts ^ICMJE

Location Countries ^ICMJE

United States

Administrative Information

NCT ID ^ICMJE

NCT00049621

Responsible Party

Study ID Numbers ^ICMJE

CDR0000258132, NCI-02-C-0313

Study Sponsor ^ICMJE

National Cancer Institute (NCI)

Collaborators ^ICMJE

Investigators ^ICMJE

Study Chair:

Kenneth H. Kraemer, MD

NCI - Basic Research Laboratory

Information Provided By

National Cancer Institute (NCI)

Verification Date

June 2009

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP