Genetic and Clinical Study of Patients With Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy - Tabular View

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Genetic and Clinical Study of Patients With Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

This study is currently recruiting participants.

Study NCT00004044. Last updated on October 18, 2008. Information provided by National Cancer Institute (NCI)

This Tabular View shows the required WHO registration data elements as marked by ^†

Descriptive Information Fields

Brief Title ^†

Genetic and Clinical Study of Patients With Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Official Title ^†

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

Brief Summary

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may lead to both earlier detection and prevention of tumors.

PURPOSE: Clinical trial to study the genetic and clinical features of patients who have xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum/Cockayne syndrome complex, or trichothiodystrophy.

Detailed Description

OBJECTIVES:

Identify patients or confirm suspected cases of xeroderma pigmentosum (XP), Cockayne syndrome (CS), XP/CS, or trichothiodystrophy (TTD).
Document presence or absence of cancers (skin, eye, tongue, or internal) in these patients.
Document atypical features or unusual environmental exposures of these patients.
Examine tissue (skin, blood, hair, or buccal swabs) from these patients and their first degree relatives for DNA repair and genetic analysis.
Identify molecular defects in the DNA repair genes in cells from these patients and correlate the defects with clinical features.
Follow the clinical course of selected patients.

OUTLINE: Patients are evaluated initially by phone, followed by a complete history and physical exam, including appropriate clinical and laboratory tests.

Tissue (skin, blood, buccal swabs, or hair) is obtained for laboratory studies of the effects of DNA damage, measurement of DNA repair, genetic analysis of DNA, and/or assessment of immunologic abnormalities.

If malignancies are detected during examinations and tissue collections, patients are referred for treatment. Genetic counseling is also available.

Patients are followed annually.

PROJECTED ACCRUAL: A total of 500 patients will be accrued for this study.

Study Phase

Study Type ^†

Observational

Study Design ^†

Primary Outcome Measure ^†

Secondary Outcome Measure ^†

Condition ^†

Head and Neck Cancer
Intraocular Melanoma
Melanoma (Skin)
Non-Melanomatous Skin Cancer
Precancerous/Nonmalignant Condition

Intervention ^†

Procedure: DNA ploidy analysis
Procedure: mutation analysis

MEDLINE PMIDs

16081512, 15692466, 14662655, 12060391, 12244178, 11709541, 11511294, 11764181, 11376341, 11121128, 15678607, 15334113, 12177305, 11846040, 11710926, 11023539

Links

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

Recruitment Information Fields

Recruitment Status ^†

Recruiting

Enrollment ^†

250

Start Date ^†

June 2000

Completion Date

Eligibility Criteria ^†

DISEASE CHARACTERISTICS:

Clinical documentation of the typical features of xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex, or trichothiodystrophy OR
Laboratory documentation of defective DNA repair OR
Suggestive clinical features of one of these diseases OR
First degree family member or relative of affected patient
Must be willing or able to provide tissue sample (skin, blood, buccal cells, or hair) for laboratory studies

PATIENT CHARACTERISTICS:

Age:

Any age

Performance status:

Not specified

Hematopoietic:

Not specified

Hepatic:

Not specified

Renal:

Not specified

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 ^††

Location Countries ^†

United States, Israel, Turkey

Administrative Information Fields

NCT ID ^†

NCT00004044

Organization ID

CDR0000067084

Secondary IDs ^††

NCI-99-C-0099

Study Sponsor ^†

NCI - Center for Cancer Research-Medical Oncology

Collaborators ^††

National Cancer Institute (NCI)

Investigators ^†

Study Chair:

Kenneth H. Kraemer, MD

NCI - Basic Research Laboratory

Information Provided By

National Cancer Institute (NCI)

Verification Date

April 2008

First Received Date ^†

December 10, 1999

Last Updated Date

October 18, 2008

^† Required WHO trial registration data element.
^†† WHO trial registration data element that is required only if it exists.