Xeroderma Pigmentosum
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
NCI-99-C-0099, NCT00004044
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Investigator(s): |
Kenneth H. Kraemer, M.D.
Principal Investigator
Phone: 301-496-9033
kraemerk@nih.gov
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Deborah Tamura, M.S., R.N.
Research Nurse
Phone: 301-594-5030
Fax: 301-594-3409
tamurad@mail.nih.gov
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Key Eligibility Criteria:
- Clinical documentation of the typical features of XP, 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)
Study 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 exams and tissue collection, patients are referred for treatment and genetic counseling if appropriate
- Patients are followed annually
Additional Information:
- This trial will be conducted at the NIH Clinical Center in Bethesda, MD. It is open to patients who meet the eligibility requirements, regardless of where they live in the United States.
- There is no charge for medical care received at NIH Clinical Center.
- PDQ (Physicians Data Query) - provides additional details about this study for health care providers.
Reviewed: 12/27/12
Updated: 3/1/07
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