Developing a Data and Tissue-Sharing Platform for von Hippel Lindau Disease
Abstract
Scientific Objective and Rationale: At this point in time, it is difficult to share information across institutions about a particular rare disease. Our overarching goal is to use a novel data sharing platform to link centers of excellence that treat von Hippel-Lindau disease, a rare hereditary cancer syndrome, to generate a large and scalable database containing longitudinal information on patients with von Hippel-Lindau disease. We will use this database to understand the relationship between specific mutations in the VHL gene and disease manifestations as well as determining response to the newly approved therapy, belzutifan, and other novel therapies that may become available in the future. We will also create a database of samples obtained from operations on von Hippel-Lindau disease related tumors, which will permit sharing of tissue among researchers. Ultimate Applicability of the Research: Performing the steps outlined in this grant will immediately generate important information on patients with von Hippel-Lindau disease but will create a unique and powerful database that can easily be accessed by many researchers, thereby facilitating additional data and tissue-based studies on von Hippel-Lindau disease and ultimately improving patient outcomes. This platform can also be easily adapted for other rare tumors, and as such this work is highly relevant for the broader rare tumor community. We have obtained letters of support from the Pheo Para Alliance and the HLRCC Family Alliance expressing support and interest in platform sharing once this program is successfully launched. What Types of Patients Will it Help and How Will it Help Them? Currently this proposal is focused on patients with von Hippel-Lindau disease and will help this patient population by creating a readily accessible database that will accelerate research. What High-Impact Opportunity or Unmet Need Is Addressed? This proposal addresses the need for a cost effective, compliant and scalable mechanism to link centers of excellence treating rare tumors to allow them to work more closely in understanding their disease, and to share clinical and tissue-based resources in an efficient manner. This becomes even more important when new therapies become available, allowing real-world data to be collected on effectiveness and on potential unanticipated side effects of these therapies. What is the Advantage of the Proposed Resource Over Existing Resources, Methodologies, or Techniques? At this point in time, data collection, management, and sharing as well as tissue sharing is a very costly, arduous and error-prone task, which requires a large number of individuals handling and updating data, and also faces many procedural and bureaucratic challenges. By having a direct, albeit secure feed from the source in the patient’s chart to the shared database the proposed system dramatically decreases cost, time, and errors in data handling, and facilitates the development of virtual consortia. What Are the Likely Contributions of This Study to Advancing Rare Cancers Research? Beyond the direct gain in knowledge from the research outlined in this proposal, this study will set the stage for creating similar data sharing platforms for other rare diseases. As noted above, the Pheo Para Alliance and the HLRCC Family Alliance are enthusiastic about adopting this platform to help develop their infrastructure. What Role Will the Rare Cancer Stakeholder Community Play in the Proposed Study to Develop the Resource-Platform? This proposal is fully and enthusiastically supported by the VHL Alliance, the largest patient advocacy organization devoted to the support of the von Hippel-Lindau patient community. The VHL Alliance has worked tirelessly to create a national and international collection of Clinical Care Centers, whose goal is to deliver the best possible care for patients with von Hippel-Lindau disease. The VHL Alliance will be a partner in and advocate for
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Dec 28, 2022
- Source ID
- W81XWH2210890
Entities
People
- Eric Jonasch
Organizations
- The University of Texas MD Anderson Cancer Center
- United States Army