Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00062166
Recruitment Status : Completed
First Posted : June 6, 2003
Results First Posted : November 14, 2018
Last Update Posted : November 14, 2018
Sponsor:
Information provided by (Responsible Party):
Naris Nilubol, M.D., National Institutes of Health Clinical Center (CC)

Brief Summary:

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.


Condition or disease
Von Hippel-Lindau Disease

  Show Detailed Description

Layout table for study information
Study Type : Observational
Actual Enrollment : 340 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Evaluation of the Natural History and Management of Pancreatic Lesions Associated With Von Hippel-Lindau
Actual Study Start Date : April 11, 2003
Actual Primary Completion Date : November 29, 2017
Actual Study Completion Date : November 29, 2017





Primary Outcome Measures :
  1. 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 [ Time Frame: 8 years ]
    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).


Secondary Outcome Measures :
  1. Percentage of Participants With Exon 3 Mutation Compared to Participants With Exon 1 or 2 Von Hippel Lindau (VHL) Mutations Who Required an Intervention [ Time Frame: 8 years ]
    Percentage of patients by the location of germline VHL mutations.

  2. Number of Participants From Which We Obtained Tissue From Pancreatic Lesions and Normal Tissue for Genetic Analysis [ Time Frame: initiation of study therapy until 2009, approximately 6 years ]
    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.

  3. Count of Participants With Serious and Non-serious Adverse Events Assessed by the Common Terminology Criteria in Adverse Events (CTCAE v4.0) [ Time Frame: 8 years ]
    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.

  4. Number of Participants With Missense or Non-missense Mutations [ Time Frame: 8 years ]
    Count of participants by the type of Von Hippel-Lindau (VHL) gene mutations.


Biospecimen Retention:   Samples With DNA
whole blood and tissue samples.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   12 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Von Hippel-Lindau (VHL) disease. Von Hippel-Lindau (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. Other tumors include kidney cancers, pheochromocytoma, eye and central nervous system tumors. These tumors occur at a higher frequency rate than normal population.
Criteria
  • 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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00062166


Locations
Layout table for location information
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
Layout table for investigator information
Principal Investigator: Naris Nilubol, M.D. National Cancer Institute (NCI)
  Study Documents (Full-Text)

Documents provided by Naris Nilubol, M.D., National Institutes of Health Clinical Center (CC):

Publications:
Layout table for additonal information
Responsible Party: Naris Nilubol, M.D., Principal Investigator, National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00062166     History of Changes
Obsolete Identifiers: NCT01444950
Other Study ID Numbers: 030145
03-C-0145
First Posted: June 6, 2003    Key Record Dates
Results First Posted: November 14, 2018
Last Update Posted: November 14, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Naris Nilubol, M.D., National Institutes of Health Clinical Center (CC):
Imaging Studies
Rate of Tumor Growth
Familial Cancer Syndrome
Surgical Resection
Additional relevant MeSH terms:
Layout table for MeSH terms
Von Hippel-Lindau Disease
Neurocutaneous Syndromes
Nervous System Diseases
Angiomatosis
Vascular Diseases
Cardiovascular Diseases
Ciliopathies
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn