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

This study is currently recruiting participants.

Verified by National Cancer Institute (NCI), December 2008

First Received: November 12, 2002 Last Updated: February 6, 2009 History of Changes

Sponsored by:	National Cancer Institute (NCI)
Information provided by:	National Cancer Institute (NCI)
ClinicalTrials.gov Identifier:	NCT00049621

Purpose

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.

Condition	Intervention
Unspecified Adult Solid Tumor, Protocol Specific Unspecified Childhood Solid Tumor, Protocol Specific	Other: physiologic testing Procedure: mutation carrier screening Procedure: study of high risk factors

MedlinePlus related topics: Cancer

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Screening, Open Label
Official Title:	Cancer Risk In Xeroderma Pigmentosum Heterozygotes

Further study details as provided by National Cancer Institute (NCI):

Estimated Enrollment:	800
Study Start Date:	August 2002

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00049621

Locations

United States, Maryland
Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office	Recruiting
Bethesda, Maryland, United States, 20892
Contact: Patient Recruitment 888-NCI-1937

Sponsors and Collaborators

National Cancer Institute (NCI)

Investigators

Study Chair:

Kenneth H. Kraemer, MD

NCI - Basic Research Laboratory

More Information

Additional Information:

Clinical trial summary from the National Cancer Institute's PDQ® database This link exits the ClinicalTrials.gov site

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.

Study ID Numbers:	CDR0000258132, NCI-02-C-0313
Study First Received:	November 12, 2002
Last Updated:	February 6, 2009
ClinicalTrials.gov Identifier:	NCT00049621 History of Changes
Health Authority:	Unspecified

Keywords provided by National Cancer Institute (NCI):

unspecified adult solid tumor, protocol specific
unspecified childhood solid tumor, protocol specific

Study placed in the following topic categories:

Xeroderma Pigmentosum
Keratosis
Metabolic Diseases
Skin Diseases
Precancerous Conditions
Photosensitivity Disorders
Pigmentation Disorders
Skin Abnormalities

Lamellar Ichthyosis
Ichthyosis
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Congenital Abnormalities
Metabolic Disorder
Skin Diseases, Genetic
Tylosis

Additional relevant MeSH terms:

Xeroderma Pigmentosum
Metabolic Diseases
Keratosis
Skin Diseases
Precancerous Conditions
Photosensitivity Disorders
Pigmentation Disorders
DNA Repair-Deficiency Disorders

Skin Abnormalities
Ichthyosis
Neoplasms
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Congenital Abnormalities
Skin Diseases, Genetic

ClinicalTrials.gov processed this record on May 07, 2009