Karmen Trzupek first learned about RARE-X while serving on the Board of Directors for the rare patient advocacy organization, the Usher Syndrome Coalition. The organization had spent several years exploring registry platforms but found they were either too expensive or required patients to surrender the rights to their health data and permit the platform owners to monetize the information.
“RARE-X solved all of these problems and pushed us to rethink the whole model,” said Trzupek. “We should not be thinking about monetizing patients in partnership with industry. Instead, advocacy organizations should think about their end goal. If the goal is the development of meaningful therapies for the patient community, then let’s work together to achieve that goal. And let’s do it arm-in-arm with other similar disease groups and patient advocacy organizations to move forward together.”
Trzupek was so impressed with RARE-X’s approach that when she later saw the organization was seeking someone to head scientific programs she saw it as an opportunity to build on her more than 20 years of experience in rare genetic disorders.
In her new role as Senior Director of Scientific Programs for RARE-X, Trzupek will be responsible for guiding RARE-X’s programs related to the collection, storage, sharing, and analysis of patient-reported, clinical, and molecular genetic data.
“The vast majority of rare diseases are genetic. A common question that patient advocacy organizations ask is, “Can we upload our genetic data? Is that genetic data going to be curated?” said Trzupek. “This is a key objective: determining how we’re going to collect genetic data, how we will curate it in a useful way, and then how we are going to make that data available for analysis.”
The other central charge for Trzupek will be to lead product and scientific strategy for RARE-X. This will involve bringing together pharmaceutical and other industry partners with patient groups and scientific advisors to address gaps in the research readiness roadmap.
One example of a collaborative project is a study RARE-X is working on in partnership with Children’s Hospital Colorado and four rare disease advocacy groups, Project 8p, Ring14 USA, SLC6A1 Connect and STXBP1 Foundation. In this study, a subset of patients across these four rare neurodevelopmental diseases enrolled in the RARE-X platform are also evaluated onsite by a clinical research team. The resulting dataset includes clinical, molecular, and patient-reported outcome data critical to advancing the research aims of each of those four disease groups.
Previously, Trzupek served as the Director of Clinical Trial Services at InformedDNA, a telehealth genomics services company. There she created partnerships between biotech companies, patient advocacy groups, and academic and community clinics to help patients with genetic diseases navigate clinical trial eligibility and enrollment.
“Karmen brings a depth of knowledge and experience working with rare disease patients and their families as a genetic counselor, and she also has a track record of forging partnerships between biotech sponsors and patient advocacy organizations,” said Charlene Son Rigby, CEO of RARE-X. “She’s demonstrated an ability to take small pilot programs and scale them through long-term collaborations; that’s one of the things we’ll be looking for her to do at RARE-X.”
As a clinical genetic counselor, Trzupek developed the first nationwide telemedicine program for rare disease genetic counseling and testing and co-developed the first pharma-sponsored genetic testing program in the United States. She holds a B.S. in Microbiology and Chemistry from the University of Illinois and an M.S. in Genetic Counseling from Northwestern University.
Trzupek said that while biopharma investment in rare disease drug development has grown significantly over the last ten years, it still is only directed at a small portion of the rare disease community.
“The vast majority of rare disease patient populations don’t have clinical trials available or even on the near horizon. They don’t have relationships with industry. They don’t have the knowledge or connections to forge relationships with biopharma companies,” she said. “It’s exciting to be part of an organization where we can start to change that model and help rare patient populations work together to use patient-owned data to advance research and development leading to meaningful therapies.”