This study is currently recruiting participants.
Number
02-C-0313
Sponsoring Institute
National Cancer Institute (NCI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 mo Max Age: 99
Referral Letter Required
No
Population Exclusion(s)
Neonates
Keywords
Sun Exposure; Xeroderma Pigmentosum; Skin Cancer; Family History; HETEROZYGOTE; Natural History
Recruitment Keyword(s)
Xeroderma Pigmentosum; XP
Condition(s)
Xeroderma Pigmentosum; Basal Cell Carcinoma; Squamous Cell Carcinoma; Melanoma; Skin Cancer
Investigational Drug(s)
None
Investigational Device(s)
Intervention(s)
Supporting Site
National Cancer Institute
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
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INCLUSION CRITERIA: Members of the XP families where the proband has previously been evaluated at the Clinical Center or is newly diagnosed under other approved protocols (primarily 99-C-0099) are eligible to participate in this study. Families with XP patients of any age (excluding neonates), gender or race are eligible for this study. -On referral, patients with XP and families of XP patients will be considered for inclusion in the study if the proband has clinical documentation of features of XP and laboratory determination of the DNA repair defect. All relatives of XP patients including spouses are eligible to participate. A spouse of a blood relative of a patient with xeroderma pigmentosum would also be eligible. -Ability of patient or Legally Authorized Representative (LAR) to sign a written informed consent document EXCLUSION CRITERIA: -Inability or unwillingness to provide family history information or tissue (skin, blood, buccal cells or hair) for laboratory studies.
Members of the XP families where the proband has previously been evaluated at the Clinical Center or is newly diagnosed under other approved protocols (primarily 99-C-0099) are eligible to participate in this study. Families with XP patients of any age (excluding neonates), gender or race are eligible for this study.
-On referral, patients with XP and families of XP patients will be considered for inclusion in the study if the proband has clinical documentation of features of XP and laboratory determination of the DNA repair defect. All relatives of XP patients including spouses are eligible to participate. A spouse of a blood relative of a patient with xeroderma pigmentosum would also be eligible.
-Ability of patient or Legally Authorized Representative (LAR) to sign a written informed consent document
EXCLUSION CRITERIA:
-Inability or unwillingness to provide family history information or tissue (skin, blood, buccal cells or hair) for laboratory studies.
Principal Investigator
Referral Contact
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