Von Hippel-Lindau Disease Clinical Trial
Official title:
Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau
Verified date | October 2018 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome. Patients are at risk for
developing pancreatic cysts and tumors. These tumors are more aggressive in some people than
in others. To learn more about this disease, its genetic cause and how best to treat it, this
study will 1) identify patients with VHL who have pancreatic lesions; 2) examine the
characteristics of the lesions and how fast they grow; 3) study how well imaging tests can
reveal lesion characteristics that will help in diagnosis; and 4) perform genetic studies
using blood and, when possible, tissue samples.
Patients 12 years of age and older with VHL involving the pancreas may be eligible for this
study. Participants will undergo some or all of the following tests and procedures:
- Interviews with a cancer doctor, cancer nurses, and a surgeon (if surgery is
recommended).
- Computed tomography (CT) scan of the abdomen, chest, or pelvis. This test uses x-rays to
produce images of body tissues and organs in small sections.
- Magnetic resonance imaging (MRI) of the abdomen. This test uses radio waves and a strong
magnetic field to produce images of body tissues and organs.
- Ultrasound of the abdomen. This test uses sound waves to create images body tissues and
organs.
- Blood tests for routine laboratory chemistries, for tests specific to the pancreas, and
for genetic studies
- 24-hour urine studies
After the tests are completed, the doctor will discuss the results with the patient. Patients
with a pancreatic tumor that requires surgery will be offered the option of an operation to
remove as much tumor as possible. Patients with lesions that are not appropriate for surgery
will be asked to return to National Institutes of Health (NIH) for scans and x-rays every
year to monitor growth of the lesions. If surgery should become advisable in the future, the
option will be discussed at that time. Patients with pancreatic cysts will be asked to return
to NIH every 2 years for scans and x-rays to monitor their condition.
Status | Completed |
Enrollment | 340 |
Est. completion date | November 29, 2017 |
Est. primary completion date | November 29, 2017 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 12 Years to 80 Years |
Eligibility |
- INCLUSION CRITERIA: Patients who have been diagnosed with Von Hippel Lindau (VHL) using the following criteria: either germ line analysis (12) or clinical criteria and a family history (8, 12) and who have at least 1 pancreatic manifestation of VHL as documented on any non-invasive imaging study. These manifestations include: 1. Pancreatic cyst(s). 2. Solid lesions suspicious for microcystic adenoma(s). 3. Solid enhancing lesions suspicious for primitive neuroectodermal tumor (PNET)(s). 4. Any other solid lesion(s) of the pancreas. Age greater than or equal to 12 years of age. Patients must be willing to return to National Institutes of Health (NIH) for follow-up. Patients/parent must be able to sign an informed consent. EXCLUSION CRITERIA: Patients unwilling to undergo serial non-invasive imaging. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Cancer Institute (NCI) |
United States,
Clifford SC, Maher ER. Von Hippel-Lindau disease: clinical and molecular perspectives. Adv Cancer Res. 2001;82:85-105. Review. — View Citation
Glenn GM, Daniel LN, Choyke P, Linehan WM, Oldfield E, Gorin MB, Hosoe S, Latif F, Weiss G, Walther M, et al. Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus. Hum Genet. 1991 Jun;87(2):207-10. — View Citation
Gnarra JR, Duan DR, Weng Y, Humphrey JS, Chen DY, Lee S, Pause A, Dudley CF, Latif F, Kuzmin I, Schmidt L, Duh FM, Stackhouse T, Chen F, Kishida T, Wei MH, Lerman MI, Zbar B, Klausner RD, Linehan WM. Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys Acta. 1996 Mar 18;1242(3):201-10. Review. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of Patients With Pancreatic Lesions Defined by Simple Cysts, Microcystic Adenomas, Neuroendocrine Tumors & Other Solid Lesions of the Pancreas Who Had Significant Growth in Lesions or Symptoms Related to the Lesions Requiring Surgical Intervention | Pancreatic lesions defined by simple cysts, microcystic adenomas, neuroendocrine tumors and other solid lesions of the pancreas were evaluated by 18F Fludeoxyglucose (18F-FDG-PET) imaging to determine if the participant developed metastatic disease (e.g. tumor spreads to different organs). | 8 years | |
Secondary | Percentage of Participants With Exon 3 Mutation Compared to Participants With Exon 1 or 2 Von Hippel Lindau (VHL) Mutations Who Required an Intervention | Percentage of patients by the location of germline VHL mutations. | 8 years | |
Secondary | Number of Participants From Which We Obtained Tissue From Pancreatic Lesions and Normal Tissue for Genetic Analysis | Count of participants from which we obtained tissue from pancreatic tumor and normal tissue (when applicable) for Deoxyribonucleic acid (DNA), ribonucleic acid (RNA), and proteins extraction. | initiation of study therapy until 2009, approximately 6 years | |
Secondary | Count of Participants With Serious and Non-serious Adverse Events Assessed by the Common Terminology Criteria in Adverse Events (CTCAE v4.0) | Here is the count of participants with serious and non-serious adverse events assessed by the Common Terminology Criteria in Adverse Events (CTCAE v4.0). A non-serious adverse event is any untoward medical occurrence. A serious adverse event is an adverse event or suspected adverse reaction that results in death, a life threatening adverse drug experience, hospitalization, disruption of the ability to conduct normal life functions, congenital anomaly/birth defect or important medical events that jeopardize the patient or subject and may require medical or surgical intervention to prevent one of the previous outcomes mentioned. | 8 years | |
Secondary | Number of Participants With Missense or Non-missense Mutations | Count of participants by the type of Von Hippel-Lindau (VHL) gene mutations. | 8 years |
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