Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
| City: |
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Bethesda |
| State: |
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Maryland |
| Zip Code: |
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20892 |
| Conditions: |
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Head and Neck Cancer - Intraocular Melanoma - Melanoma (Skin) - Non-melanomatous Skin Cancer - Precancerous Condition |
| Purpose: |
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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.
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| Study Summary: |
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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.
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| Criteria: |
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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
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| NCT ID: |
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NCT00004044 |
| Primary Contact: |
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Study Chair
Kenneth H. Kraemer, MD
NCI - Dermatology Branch
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| Backup Contact: |
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N/A |
| Location Contact: |
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Bethesda, Maryland 20892
United States
Clinical Trials Office - Warren Grant Magnusen Clinical Center
Phone: 888-NCI-1937
Site Status: Recruiting |
| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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May 25, 2013 |
| Modifications to this listing: |
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