MelanomaNCT00341991
Molecular Epidemiology of Cutaneous Malignant Melanoma
An observational study of Melanoma, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
This case-control study was planned to investigate the link of solar radiation with gene damage, host factors, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Melanoma
- How many people
- 15,401 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2001to 26 Jun 2020
- 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 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Cases from hospitals; Controls from the general populations
- Analysis on samples already collected.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Cancer Institute (NCI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
This case-control study was planned to investigate the link of solar radiation with gene damage, host factors, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk. The hypothesis was that impaired DNA repair proficiency is associated with an increased risk of CMM due to unrepaired DNA damage, particularly in subjects with dysplastic nevi, poor tanning ability or genetic susceptibility.
The study was reviewed as an RO1 Grant from the National Cancer Institute in 1995. Subject enrollment, which included clinical evaluation, epidemiologic questionnaires, and skin and blood sample collection, was completed in 1999 on approximately 180 melanoma cases and 180 controls identified in Italy. The study protocol and consent form both included the measurement of genetic and biochemical factors and DNA repair capacity. DNA repair proficiency was measured in lymphocytes by the host cell reactivation assay, and sun exposure was evaluated by means of a detailed questionaire. Photographs of the back of the subjects were taken to allow nevi count. Minimal erythemal dosage was measured in all subjects to estimate skin sun sensitivity 24 hours after skin's UV-irradiation. Skin color was ascertained on the inner side of the forearm by means of a Minolta chromometer.
The aim of this protocol is to continue analysis of the biological samples already collected, as originally outlined in the study protocol. In particular, we plan to measure polymorphisms in genes that may lead to susceptibility to melanoma. Initially we will concentrate on variation in genes involved in repairing damaged DNA, but plan to look at a broad group of candidate susceptibility genes.
Read the detailed description
The original case-control study was planned to investigate the link of solar radiation with gene damage, host factors, including also genetic variants, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk, in subjects from the Mediterranean area, characterized by a wide range of pigmentary characteristics and intense sun exposure. This study was reviewed and funded as an R01 grant from the National Cancer Institute in 1995. Subject enrollment, which included clinical evaluation, epidemiologic questionnaires, and skin and blood sample collection, was completed in 1999 on approximately 180 melanoma cases and 180 controls identified in Italy. The study protocol and consent form both included the measurement of genetic and biochemical factors, and DNA repair capacity. DNA repair proficiency was measured in lymphocytes by the host cell reactiviation assay, and sun exposure was evaluated by means of a detailed questionnaire. Minimal erythemal dosage was measured in all subjects to estimate skin sun sensitivity 24 hours after skin's UVirradiation. Skin color was ascertained on the inner side of the forearm by means of a minolta chromometer.
The aim of this protocol was to continue the analysis of the biological samples and data already collected, as originally outlined in the study protocol. However, the original sample size was small and precluded specific analyses of gene-environment interaction crucial for the understanding of the etiology of melanoma. We have identified other collaborators willing to share their data and sample with us to increase the power for statistical analyses. We obtained approval (amendments to 02-C-N035 approved in November 2006, September 2008, December 2010, and June 2011) to use the DNA samples and data collected in four studies conducted by investigators at the University of L'Aquila, Italy, University of Genoa, Italy, Istituto Valenciano de Oncologia, Valencia, Spain, and the New York University School of Medicine, respectively. We have obtained approval with stipulations in August 2014 to also include samples and data collected from the Papa Giovanni XXII Hospital in Bergamo, Italy and the University of Athens, Greece. We are now responding to the stipulations and asking to further include samples from the University of Padua and the Hospital Clinic of Barcelona within the same study.
We are currently analyzing genes in several pathways, including pigmentation, DNA repair, immune-related functions and those involved in the transition from nevi to melanoma (genes in the cell cycle, telomere, signaling pathways, etc). With the additional samples we plan to conduct a GWAS analysis of melanoma in Mediterranean countries and a molecular analysis of melanoma tissue lesions for an improved classification of the disease and its association with melanoma progression.
- Conditions
- Melanoma
- Keywords
- DNA Repair, Genes, Pigmentation, Skin Cancer, Sun Exposure
- Medical subject headings
- 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 | Cases from hospitals | |
| 2 | Controls from the general populations | |
| 3 | Biological Samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genome-wide association studies, environmental and somatic analyses
To identify genes, host and environmental factors that lead to susceptibility to melanoma.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start1 Nov 2001
- Primary completion26 Sep 2007
- Study completion26 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for MelanomaStudies 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
- Other
- Time perspective
- Retrospective
- Enrolment
- 15,401 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Maria T Landi, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00341991
- Sponsor's protocol ID
- 999902035
- Other IDs
- 02-C-N035
- Status last verified
- Jun 2020
- First submitted
- 19 Jun 2006
- Last updated
- 30 Jun 2020
- Results posted
- No
Publications
Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC. MC1R germline variants confer risk for BRAF-mutant melanoma. Science. 2006 Jul 28;313(5786):521-2. doi: 10.1126/science.1127515. Epub 2006 Jun 29.
PubMed 16809487Landi MT, Kanetsky PA, Tsang S, Gold B, Munroe D, Rebbeck T, Swoyer J, Ter-Minassian M, Hedayati M, Grossman L, Goldstein AM, Calista D, Pfeiffer RM. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst. 2005 Jul 6;97(13):998-1007. doi: 10.1093/jnci/dji176.
PubMed 15998953Nagore E, Heidenreich B, Rachakonda S, Garcia-Casado Z, Requena C, Soriano V, Frank C, Traves V, Quecedo E, Sanjuan-Gimenez J, Hemminki K, Landi MT, Kumar R. TERT promoter mutations in melanoma survival. Int J Cancer. 2016 Jul 1;139(1):75-84. doi: 10.1002/ijc.30042. Epub 2016 Mar 2.
PubMed 26875008
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Epidemiology of Cutaneous Malignant Melanoma
- ClinicalTrials.gov ID
- NCT00341991
- Acronym / sponsor ID
- 999902035
- Conditions
- Melanoma
- Keywords
- DNA Repair, Genes, Pigmentation, Skin Cancer, Sun Exposure
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 15,401 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 1 Nov 2001 (actual)
- Primary completion
- 26 Sep 2007 (actual)
- Study completion
- 26 Jun 2020 (actual)
- First posted
- 21 Jun 2006 (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 case-control study was planned to investigate the link of solar radiation with gene damage, host factors, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk. The hypothesis was that impaired DNA repair proficiency is associated with an increased risk of CMM due to unrepaired DNA damage, particularly in subjects with dysplastic nevi, poor tanning ability or genetic susceptibility.
The study was reviewed as an RO1 Grant from the National Cancer Institute in 1995. Subject enrollment, which included clinical evaluation, epidemiologic questionnaires, and skin and blood sample collection, was completed in 1999 on approximately 180 melanoma cases and 180 controls identified in Italy. The study protocol and consent form both included the measurement of genetic and biochemical factors and DNA repair capacity. DNA repair proficiency was measured in lymphocytes by the host cell reactivation assay, and sun exposure was evaluated by means of a detailed questionaire. Photographs of the back of the subjects were taken to allow nevi count. Minimal erythemal dosage was measured in all subjects to estimate skin sun sensitivity 24 hours after skin's UV-irradiation. Skin color was ascertained on the inner side of the forearm by means of a Minolta chromometer.
The aim of this protocol is to continue analysis of the biological samples already collected, as originally outlined in the study protocol. In particular, we plan to measure polymorphisms in genes that may lead to susceptibility to melanoma. Initially we will concentrate on variation in genes involved in repairing damaged DNA, but plan to look at a broad group of candidate susceptibility genes.
Detailed description
The original case-control study was planned to investigate the link of solar radiation with gene damage, host factors, including also genetic variants, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk, in subjects from the Mediterranean area, characterized by a wide range of pigmentary characteristics and intense sun exposure. This study was reviewed and funded as an R01 grant from the National Cancer Institute in 1995. Subject enrollment, which included clinical evaluation, epidemiologic questionnaires, and skin and blood sample collection, was completed in 1999 on approximately 180 melanoma cases and 180 controls identified in Italy. The study protocol and consent form both included the measurement of genetic and biochemical factors, and DNA repair capacity. DNA repair proficiency was measured in lymphocytes by the host cell reactiviation assay, and sun exposure was evaluated by means of a detailed questionnaire. Minimal erythemal dosage was measured in all subjects to estimate skin sun sensitivity 24 hours after skin's UVirradiation. Skin color was ascertained on the inner side of the forearm by means of a minolta chromometer.
The aim of this protocol was to continue the analysis of the biological samples and data already collected, as originally outlined in the study protocol. However, the original sample size was small and precluded specific analyses of gene-environment interaction crucial for the understanding of the etiology of melanoma. We have identified other collaborators willing to share their data and sample with us to increase the power for statistical analyses. We obtained approval (amendments to 02-C-N035 approved in November 2006, September 2008, December 2010, and June 2011) to use the DNA samples and data collected in four studies conducted by investigators at the University of L'Aquila, Italy, University of Genoa, Italy, Istituto Valenciano de Oncologia, Valencia, Spain, and the New York University School of Medicine, respectively. We have obtained approval with stipulations in August 2014 to also include samples and data collected from the Papa Giovanni XXII Hospital in Bergamo, Italy and the University of Athens, Greece. We are now responding to the stipulations and asking to further include samples from the University of Padua and the Hospital Clinic of Barcelona within the same study.
We are currently analyzing genes in several pathways, including pigmentation, DNA repair, immune-related functions and those involved in the transition from nevi to melanoma (genes in the cell cycle, telomere, signaling pathways, etc). With the additional samples we plan to conduct a GWAS analysis of melanoma in Mediterranean countries and a molecular analysis of melanoma tissue lesions for an improved classification of the disease and its association with melanoma progression.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Cases from hospitals |
| 2 | – | –Controls from the general populations |
| 3 | – | –Biological Samples |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Cases from hospitals; Controls from the general populations
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
Genome-wide association studies, environmental and somatic analyses
Time frame: Ongoing
To identify genes, host and environmental factors that lead to susceptibility to melanoma.
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 30 Jun 2020.
- Background: PubMed 16809487Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC. MC1R germline variants confer risk for BRAF-mutant melanoma. Science. 2006 Jul 28;313(5786):521-2. doi: 10.1126/science.1127515. Epub 2006 Jun 29.
- Background: PubMed 15998953Landi MT, Kanetsky PA, Tsang S, Gold B, Munroe D, Rebbeck T, Swoyer J, Ter-Minassian M, Hedayati M, Grossman L, Goldstein AM, Calista D, Pfeiffer RM. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst. 2005 Jul 6;97(13):998-1007. doi: 10.1093/jnci/dji176.
- Background: PubMed 26875008Nagore E, Heidenreich B, Rachakonda S, Garcia-Casado Z, Requena C, Soriano V, Frank C, Traves V, Quecedo E, Sanjuan-Gimenez J, Hemminki K, Landi MT, Kumar R. TERT promoter mutations in melanoma survival. Int J Cancer. 2016 Jul 1;139(1):75-84. doi: 10.1002/ijc.30042. Epub 2016 Mar 2.
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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.
Maria T Landi, 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 Melanoma, 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?
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 30 Jun 2020. 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?
Genome-wide association studies, environmental and somatic analyses (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00341991, which also lists 3 linked publications.
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 30 Jun 2020.