Xeroderma PigmentosumNCT00046189
Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
An observational study of Xeroderma Pigmentosum and Basal Cell Carcinoma, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 99 years
- Conditions the study is for
- Xeroderma Pigmentosum, Basal Cell Carcinoma, Squamous Cell Carcinoma
- How many people
- 301 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Apr 2003to 5 Jan 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with XP families where the proband has previously been evaluated at the Clinical Center or is newly diagnosed
Who may be able to join
- 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
Who cannot join
- -Inability or unwillingness to provide family history information or tissue (skin, blood, buccal cells or hair) for laboratory studies.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Cancer Risk in Xeroderma Pigmentosum Heterozygotes
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.
Read more
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
Read the 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.
- Conditions
- Xeroderma Pigmentosum, Basal Cell Carcinoma, Squamous Cell Carcinoma, Melanoma, Skin Cancer
- Keywords
- Sun Exposure, Xeroderma Pigmentosum, Skin Cancer, Family History, HETEROZYGOTE, Natural History, XP
- Medical subject headings
- Xeroderma Pigmentosum, Carcinoma, Basal Cell, Carcinoma, Squamous Cell, Melanoma, Skin Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Patients with XP | |
| 2 | Family members from XP families with known DNA repair gene mutations |
What is being measured
The primary outcome is the main question the study is designed to answer.
Determine increased risk of developing cancer
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
Measured: Annual
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Sep 2002 (estimated)
- Study start7 Apr 2003
- Primary completion5 Jan 2024
- Study completion5 Jan 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Xeroderma PigmentosumStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 301 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Kenneth H Kraemer, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00046189
- Sponsor's protocol ID
- 020313
- Other IDs
- 02-C-0313
- Status last verified
- Jan 2024
- First submitted
- 21 Sep 2002
- Last updated
- 8 Jan 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cancer Risk in Xeroderma Pigmentosum Heterozygotes
- ClinicalTrials.gov ID
- NCT00046189
- Acronym / sponsor ID
- 020313
- Conditions
- Xeroderma Pigmentosum, Basal Cell Carcinoma, Squamous Cell Carcinoma, Melanoma, Skin Cancer
- Keywords
- Sun Exposure, Xeroderma Pigmentosum, Skin Cancer, Family History, HETEROZYGOTE, Natural History, XP
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 301 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 7 Apr 2003 (actual)
- Primary completion
- 5 Jan 2024 (actual)
- Study completion
- 5 Jan 2024 (actual)
- First posted
- 23 Sep 2002 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Patients with XP |
| 2 | – | –Family members from XP families with known DNA repair gene mutations |
Who may qualify
- Ages
- 1 month to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with XP families where the proband has previously been evaluated at the Clinical Center or is newly diagnosed
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (1 listed)
- -Inability or unwillingness to provide family history information or tissue (skin, blood, buccal cells or hair) for laboratory studies.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2024.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kenneth H Kraemer, M.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Xeroderma Pigmentosum and Basal Cell Carcinoma, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jan 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine increased risk of developing cancer (time frame: Annual). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2024; AzTrials last refreshed its copy on 8 Nov 2026.