Ignite Creation Date:
2024-05-05 @ 11:27 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00046189
Status:
COMPLETED
Last Update Posted:
2024-01-08
First Post:
2002-09-21
Brief Title:
Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Cancer Risk in Xeroderma Pigmentosum Heterozygotes
Status:
COMPLETED
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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
Detailed Description:
Xeroderma Pigmentosum XP is a rare recessive disorder with a more than 1000-fold increase in the frequency of all major skin cancers in association with defective DNA repair The risk of skin and other cancers among normal appearing XP heterozygote individuals has not been fully studied We plan to study the family members from XP families with known DNA repair gene mutations to determine if heterozygote carriers of XP disease mutations are at an increased risk of developing cancer For controls we will compare XP heterozygotes to their non-carrier blood relatives and spouses and to the Surveillance Epidemiology and End Results SEER rates For this purpose blood skin or buccal cells will be obtained from all available relatives for DNA or RNA mutation analysis Cancer confirmation will be accomplished through review of pathology reports medical records and death certificates In addition willing family members will be clinically examined to determine current cancer status Individuals who are determined to be heterozygous carriers of XP DNA repair gene disease mutations in these families by mutation analysis or by pedigree will be compared to non-carrier relatives and spouses with respect to history of any type of cancer We will also focus on skin cancer and cancer of the nervous system since the risks of these cancers are elevated among the XP homozygotes
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-C-0313 | None | None | None |