Ignite Creation Date:
2024-05-05 @ 11:28 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00040352
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
2002-06-25
Brief Title:
Clinical Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
Sponsor:
National Cancer Institute NCI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
Status:
RECRUITING
Status Verified Date:
2024-10-01
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 investigate how genetic and environmental factors contribute to the development of melanoma a type of skin cancer and related conditions
Individuals 4 weeks with a personal or family history of melanoma or atypical spitzoidSpitz tumor may be eligible for this study Participants will
Fill out one or two questionnaires about their personal and family medical history
Provide written consent for researchers to review their medical records and pathology materials related to their care and those of deceased relatives with melanomas tumors cancer or other related illnesses for whom they are the next-of-kin or legally authorized representative
Donate a blood or cheek cell sample to be used for genetic studies The blood sample is collected through a needle in an arm vein The cheek cell sample is obtained either by gently brushing the inside of the mouth with a soft brush or by swishing a tablespoon of mouthwash and then spitting it into a container
Undergo a skin biopsy removal of a small piece of skin tissue for genetic study For this procedure the area of skin to be removed is numbed with a local anesthetic and a 14-inch piece of skin is excised with a cookie cutter-like instrument The wound is then covered with a band-aid
Participants may be asked to travel to the NIH Clinical Center for evaluation including a medical history physical examination and some of the following procedures
Full body skin examination to evaluate the type and number of moles and document any evidence of sun damage to the skin The examination involves all the skin from the scalp to the bottoms of the feet After the examination a medical photographer will photograph the skin with close-ups of skin lesions marked by the examiner If there are parts of the skin the participant does not want examined or photographed he or she can tell the examiner
Blood draw of about 120 milliliters 4 ounces or less
Skin biopsy
Cheek cell sample
X-rays ultrasound and magnetic resonance imaging MRI studies to detect tumors or changes in tumors or other types of changes in specific tissues MRI is a diagnostic test that uses strong magnetic fields and radiowaves to examine body tissues The subject lies on a table that is moved into a large tunnel-like machine the scanner for about 45 minutes to 1 hour
When the tests are finished a doctor will discuss the results with the participant and the need if any for clinical follow-up
Individuals 4 weeks with a personal or family history of melanoma or atypical spitzoidSpitz tumor may be eligible for this study Participants will
Fill out one or two questionnaires about their personal and family medical history
Provide written consent for researchers to review their medical records and pathology materials related to their care and those of deceased relatives with melanomas tumors cancer or other related illnesses for whom they are the next-of-kin or legally authorized representative
Donate a blood or cheek cell sample to be used for genetic studies The blood sample is collected through a needle in an arm vein The cheek cell sample is obtained either by gently brushing the inside of the mouth with a soft brush or by swishing a tablespoon of mouthwash and then spitting it into a container
Undergo a skin biopsy removal of a small piece of skin tissue for genetic study For this procedure the area of skin to be removed is numbed with a local anesthetic and a 14-inch piece of skin is excised with a cookie cutter-like instrument The wound is then covered with a band-aid
Participants may be asked to travel to the NIH Clinical Center for evaluation including a medical history physical examination and some of the following procedures
Full body skin examination to evaluate the type and number of moles and document any evidence of sun damage to the skin The examination involves all the skin from the scalp to the bottoms of the feet After the examination a medical photographer will photograph the skin with close-ups of skin lesions marked by the examiner If there are parts of the skin the participant does not want examined or photographed he or she can tell the examiner
Blood draw of about 120 milliliters 4 ounces or less
Skin biopsy
Cheek cell sample
X-rays ultrasound and magnetic resonance imaging MRI studies to detect tumors or changes in tumors or other types of changes in specific tissues MRI is a diagnostic test that uses strong magnetic fields and radiowaves to examine body tissues The subject lies on a table that is moved into a large tunnel-like machine the scanner for about 45 minutes to 1 hour
When the tests are finished a doctor will discuss the results with the participant and the need if any for clinical follow-up
Detailed Description:
Study Description
Melanoma-prone families and individuals with risk factors for melanoma including people with Spitzoid tumors and giant congenital nevi are human models of susceptibility to neoplasia from which mechanisms of cancer susceptibility may be elucidated For most of the high-risk cancer susceptibility genes including CDKN2A and CDK4 in melanoma-prone families germline mutations conferring risk have been found through family studies Investigations of individuals and families at high risk of melanoma have led to etiologic clues that are important in the general population and have identified persons most likely to benefit from chemoprevention trials and screening programs aimed at early diagnosis of melanoma
Objectives
1 To evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to melanoma
2 To evaluate potential precursor states of disease in individuals and families at risk
3 To quantify risks of melanoma pancreatic cancer and other cancers in family members and individuals with an elevated risk for melanoma
4 To map clone and determine function of tumor susceptibility genes in melanoma-prone families including modifier genes such as pigmentation or dysplastic nevi genes
5 To identify genetic determinants and gene-environmental interactions conferring melanoma and other cancer risk in individuals and families
6 To evaluate gene-gene and gene-environment interactions in melanoma and other cancer formation
7 To characterize genetic alternations in precursor lesions and melanomas that occur in individuals and families with an increased risk of melanoma
8 To educate and counsel study participants about their melanoma risk and methods for primary and secondary prevention of melanoma
9 To develop educational materials for medical professionals and high-risk family members
Endpoints
Primary endpoints
All cancers that occur in individuals and families at high risk of melanoma
Secondary endpoints
Secondary endpoints are markers of pre-malignant conditions such as dysplastic nevi giant congenital nevi and Spitzoid tumors
Melanoma-prone families and individuals with risk factors for melanoma including people with Spitzoid tumors and giant congenital nevi are human models of susceptibility to neoplasia from which mechanisms of cancer susceptibility may be elucidated For most of the high-risk cancer susceptibility genes including CDKN2A and CDK4 in melanoma-prone families germline mutations conferring risk have been found through family studies Investigations of individuals and families at high risk of melanoma have led to etiologic clues that are important in the general population and have identified persons most likely to benefit from chemoprevention trials and screening programs aimed at early diagnosis of melanoma
Objectives
1 To evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to melanoma
2 To evaluate potential precursor states of disease in individuals and families at risk
3 To quantify risks of melanoma pancreatic cancer and other cancers in family members and individuals with an elevated risk for melanoma
4 To map clone and determine function of tumor susceptibility genes in melanoma-prone families including modifier genes such as pigmentation or dysplastic nevi genes
5 To identify genetic determinants and gene-environmental interactions conferring melanoma and other cancer risk in individuals and families
6 To evaluate gene-gene and gene-environment interactions in melanoma and other cancer formation
7 To characterize genetic alternations in precursor lesions and melanomas that occur in individuals and families with an increased risk of melanoma
8 To educate and counsel study participants about their melanoma risk and methods for primary and secondary prevention of melanoma
9 To develop educational materials for medical professionals and high-risk family members
Endpoints
Primary endpoints
All cancers that occur in individuals and families at high risk of melanoma
Secondary endpoints
Secondary endpoints are markers of pre-malignant conditions such as dysplastic nevi giant congenital nevi and Spitzoid tumors
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-0211 | None | None | None |