Von Hippel-Lindau Disease Genetic Epidemiology Study
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Cancer, Other Indications |
| Therapuetic Areas: | Oncology, Other |
| Healthy: | No |
| Age Range: | 13 - 100 |
| Updated: | 8/11/2018 |
| Start Date: | February 26, 1999 |
Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study
The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control
study to be conducted by the National Cancer Institute. The study subjects are 603
individuals who were determined to belong to families with VHL disease confirmed through
screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient
volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have
already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13
- 17 will be included. All subjects will give informed consent prior to participation; for
minor subjects, assent will be obtained from the minor and consent from the parent/guardian.
This protocol provides the potential to benefit people with VHL disease (although not
necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary)
forms of the tumors which occur in VHL disease. The risks and discomfort associated with this
study are minor.
The present protocol is a new epidemiologic component to VHL research at NIH which will
relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical
activity), occupational exposures, reproductive and hormonal factors, demographic factors,
medication use, diet, and putative susceptibility genes. Information will be collected by
telephone interview and a written, self-administered diet questionnaire. A cheek cell sample
will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to
document events reported by the subject at interview. Primary comparisons will be between VHL
patients with a particular manifestation and VHL patients who are free of that condition.
Additional comparisons may be made with unaffected family members who lack a mutation in the
VHL gene, as appropriate.
study to be conducted by the National Cancer Institute. The study subjects are 603
individuals who were determined to belong to families with VHL disease confirmed through
screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient
volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have
already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13
- 17 will be included. All subjects will give informed consent prior to participation; for
minor subjects, assent will be obtained from the minor and consent from the parent/guardian.
This protocol provides the potential to benefit people with VHL disease (although not
necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary)
forms of the tumors which occur in VHL disease. The risks and discomfort associated with this
study are minor.
The present protocol is a new epidemiologic component to VHL research at NIH which will
relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical
activity), occupational exposures, reproductive and hormonal factors, demographic factors,
medication use, diet, and putative susceptibility genes. Information will be collected by
telephone interview and a written, self-administered diet questionnaire. A cheek cell sample
will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to
document events reported by the subject at interview. Primary comparisons will be between VHL
patients with a particular manifestation and VHL patients who are free of that condition.
Additional comparisons may be made with unaffected family members who lack a mutation in the
VHL gene, as appropriate.
The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control
study to be conducted by the National Cancer Institute. The study subjects are 603
individuals who were determined to belong to families with VHL disease confirmed through
screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient
volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have
already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13
- 17 will be included. All subjects will give informed consent prior to participation; for
minor subjects, assent will be obtained from the minor and consent from the parent/guardian.
This protocol provides the potential to benefit people with VHL disease (although not
necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary)
forms of the tumors which occur in VHL disease. The risks and discomfort associated with this
study are minor.
The present protocol is a new epidemiologic component to VHL research at NIH which will
relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical
activity), occupational exposures, reproductive and hormonal factors, demographic factors,
medication use, diet, and putative susceptibility genes. Information will be collected by
telephone interview and a written, self-administered diet questionnaire. A cheek cell sample
will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to
document events reported by the subject at interview. Primary comparisons will be between VHL
patients with a particular manifestation and VHL patients who are free of that condition.
Additional comparisons may be made with unaffected family members who lack a mutation in the
VHL gene, as appropriate.
study to be conducted by the National Cancer Institute. The study subjects are 603
individuals who were determined to belong to families with VHL disease confirmed through
screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient
volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have
already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13
- 17 will be included. All subjects will give informed consent prior to participation; for
minor subjects, assent will be obtained from the minor and consent from the parent/guardian.
This protocol provides the potential to benefit people with VHL disease (although not
necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary)
forms of the tumors which occur in VHL disease. The risks and discomfort associated with this
study are minor.
The present protocol is a new epidemiologic component to VHL research at NIH which will
relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical
activity), occupational exposures, reproductive and hormonal factors, demographic factors,
medication use, diet, and putative susceptibility genes. Information will be collected by
telephone interview and a written, self-administered diet questionnaire. A cheek cell sample
will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to
document events reported by the subject at interview. Primary comparisons will be between VHL
patients with a particular manifestation and VHL patients who are free of that condition.
Additional comparisons may be made with unaffected family members who lack a mutation in the
VHL gene, as appropriate.
- INCLUSION CRITERIA:
Eligible patient volunteers are those who:
1. have been enrolled in protocol 89-C-0086;
2. are a member of a family in which at least one person has been diagnosed with VHL at
NIH; and
3. are at least 13 years of age.
Patient volunteers seen under protocol 89-C-0086 who have been diagnosed with VHL, are at
risk of VHL, or are unaffected are all eligible for study.
Additional families screened throughout the field period and meeting all eligibility
criteria will also be able to participate.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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