Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
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|ClinicalTrials.gov Identifier: NCT00046189|
Recruitment Status : Recruiting
First Posted : September 23, 2002
Last Update Posted : November 8, 2019
This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal cancers, or other changes. XP is a rare inherited disease that involves an inability to repair damage to cell DNA (genetic material). It can affect several organ systems, including the skin, eye, nervous system, and bones. Patients have a more than thousand-fold increase in frequency in all major skin cancers.
Parents of patients with XP are carriers of the abnormal XP gene. Other family members may also be carriers of the abnormal XP gene. Carriers do not develop the disease themselves; symptoms develop only in children who have inherited the faulty gene from both parents. This study will try to clarify the genetic basis for XP and to understand the increased frequency of cancer in the disease.
XP patients who have been evaluated at the NIH Clinical Center and their relatives are eligible for this study. Newly diagnosed XP patients are also eligible. Spouses of relatives will also be included as control subjects.
Patients and their family members will undergo some or all of the following procedures:
- Parental permission to review the child s relevant medical records and pathology material from treatments or surgery for cancer or other related illnesses
- Medical history and physical examination, with particular attention to the skin and possible eye, hearing or neurological examinations
- Photographs to document skin and other physical findings
- Nuclear medicine scans to evaluate the brain and nervous system
- X-rays of the skull or other parts of the body
- Nervous system testing with an electroencephalogram (EEG), electroretinogram (ERG), electromyogram (EMG) or nerve conduction velocity measurement
- Collection of blood and skin samples for gene studies
- Establishment of cell lines from collected blood or tissues to study DNA repair, skin cancer, cancers related to XP, immune defects, and related studies.
- Biopsy (surgical removal of a small piece of tissue) of suspicious skin lesions for examination under a microscope
- Collection of a cheek cell sample, obtained by twirling a soft brush against the inside of the cheek
- Collection of a hair sample for microscopic examination and composition analysis
- Surgery to treat skin cancers or other lesions
|Condition or disease|
|Xeroderma Pigmentosum Basal Cell Carcinoma Squamous Cell Carcinoma Melanoma Skin Cancer|
|Study Type :||Observational|
|Estimated Enrollment :||800 participants|
|Official Title:||Cancer Risk in Xeroderma Pigmentosum Heterozygotes|
|Actual Study Start Date :||April 7, 2003|
Patients with XP
Family members from XP families with known DNA repair gene mutations
- Determine increased risk of developing cancer [ Time Frame: Annual ]risk of any type of cancer, skin cancer and cancers of the nervous system are compared in the relatives who are heterozygotes for the XP mutations and relatives who do not carry the XP mutations by calculating the odds ratios
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00046189
|Contact: Deborah E Tamura, R.N.||(240) firstname.lastname@example.org|
|Contact: Kenneth H Kraemer, M.D.||(240) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office (888) NCI-1937|
|Principal Investigator:||Kenneth H Kraemer, M.D.||National Cancer Institute (NCI)|