MyVHL: Patient Natural History Study (MyVHL)

MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other factors impact the disease and quality of life. These insights help you better understand the condition and help researchers know where to focus their efforts.

Due to its rarity, there is less understanding of VHL and the factors that may have an impact. The data individuals provide in MyVHL helps researchers identify and uncover factors that may increase risk, inhibit or slow tumor growth, or lead to an effective cure.

Study Overview

• Status: Recruiting
• Conditions: Von Hippel-Lindau Disease; Hereditary Leiomyomatosis and Renal Cell Cancer; Birt-Hogg-Dube Syndrome; SDHB Gene Mutation

• Study Type: Observational
• Enrollment (Anticipated): 10000

Contacts and Locations

• Study Contact: Name: Joshua Mann, MPH; Phone Number: 4 161727756674; Email: josh.mann@vhl.org

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02132
      • Recruiting
      • VHL Alliance
      • Contact: Joshua Mann, MPH; Phone Number: 4 617-277-5667; Email: josh.mann@vhl.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with von Hippel-Lindau Disease (VHL)

Description

Inclusion Criteria:

• All patients with von Hippel-Lindau Disease (VHL)

Exclusion Criteria:

-

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients with CNS, kidney, adrenal, retinal, thyroid, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, as they relate to VHL, BHD, HLRCC, and SDHB and specific genetic mutation.	Data regarding changes in number of CNS, kidney, adrenal, retinal, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, over a lifetime.	Through study completion, an average of 1 year.
Size of tumors in patients with CNS, kidney, adrenal, retinal, thyroid, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, as they relate to VHL, BHD, HLRCC, and SDHB and specific genetic mutation.	Data regarding changes in size of CNS, kidney, adrenal, retinal, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, over a lifetime.	Through study completion, an average of 1 year.

Collaborators and Investigators

• Sponsor: Joshua Mann, MPH
• Collaborators: National Organization for Rare Disorders
• Investigators: Principal Investigator: Joshua Mann, MPH, VHL Alliance

Publications and helpful links

General Publications

• Larcher A, Rowe I, Belladelli F, Fallara G, Raggi D, Necchi A, Montorsi F, Capitanio U, Salonia A; OSR VHL Program. Von Hippel-Lindau disease-associated renal cell carcinoma: a call to action. Curr Opin Urol. 2022 Jan 1;32(1):31-39. doi: 10.1097/MOU.0000000000000950.

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2012
• Primary Completion (Anticipated): December 1, 2024
• Study Completion (Anticipated): December 1, 2024

Study Registration Dates

• First Submitted: May 30, 2018
• First Submitted That Met QC Criteria: November 20, 2018
• First Posted (Actual): November 21, 2018

Study Record Updates

• Last Update Posted (Actual): October 14, 2022
• Last Update Submitted That Met QC Criteria: October 13, 2022
• Last Verified: October 1, 2022

More Information

Terms related to this study

• Keywords: HLRCC; VHL; BHD; SDHB; MyVHL
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Nervous System Diseases; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Kidney Diseases; Urologic Diseases; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Congenital Abnormalities; Genetic Diseases, Inborn; Kidney Neoplasms; Neoplastic Syndromes, Hereditary; Abnormalities, Multiple; Neoplasms, Muscle Tissue; Neurocutaneous Syndromes; Ciliopathies; Angiomatosis; Leiomyoma; Carcinoma, Renal Cell; Von Hippel-Lindau Disease; Leiomyomatosis; Birt-Hogg-Dube Syndrome
• Other Study ID Numbers: 0001 (Cancer Research Institute)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

IPD Plan Description

When participant information is stored, the investigators are careful to protect any patient identifying information from discovery by others. Strict security safeguards are in place to reduce the chance of misuse or unplanned release of information.

Researchers will only use participant information in a de-identified manner. De-identified means that the researchers will use participant information without knowing their identity. In some cases, they may use some identifying information about the participant for research purposes, subject to an approval process through the VHL Alliance MyVHL Research Committee. At times, the researchers will use participant information with a code, instead of their name; the code would allow results of the research to be linked back to the participant.

• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No