PSC Partners opened the Patient Registry for enrollment 10 years ago. However, the process of building a Registry began several years before its 2014 launch.
Looking back to 2010, the concept of a patient-driven registry was in the realm of the impossible. The medical world questioned the value of any patient initiative, and the rare disease field remained unexplored.
Hungry for treatments for our incurable disease, Registry Director and Founder, Rachel Gomel attended a crowded National Institutes of Health (NIH) meeting in Washington, D.C. There, we first heard the invigorating message that well-organized patient organizations could acquire the power to speed up research by creating their own patient-driven registries. These would be different from registries established by physicians and managed by medical centers. They would be organized by patients, run by patients, and the data would be provided by patients.
We couldn’t believe that patient-driven data could have a place in research. But it was the NIH, the Food and Drug Administration (FDA), clinicians, and researchers themselves who were showing us the way.
PSC Partners was then a tiny team of passionate, eager patient and caregiver volunteers who believed that a cure for PSC could be within our reach if we brought awareness of our unmet needs to those positioned to help us stimulate research.
At that large workshop 14 years ago, many speakers shared their perspective on the huge hurdles that prevented rare disease research from moving forward. One story vividly persisted with us through the years and motivated us to keep pursuing the registry initiative.
On the podium stood an elderly doctor who shared how she had zealously collected data from patients seriously impacted by a very rare disease. She described the devastating disease and the hours she had spent collecting each patient’s clinical information and recording their data into a registry. And yet, since her retirement, all the data she had painstakingly gathered was collecting dust on a shelf in her office.
No one was interested in the data, and no one wanted to maintain her registry. She burst into an impassioned plea, asking us - patient organizations - to take charge of our patients’ data, since patients would be the best and most responsible stewards of their data and would never allow this valuable information to die.
We started our journey not knowing where the Registry would take us.
In 2012, the NIH selected PSC Partners for its pilot rare disease registry program. After two years of work with the NIH, the PSC Partners Patient Registry was launched in 2014. A steady stream of PSC community members came forward to share their medical information. Through the years, we’ve watched the transformation of the medical field and of the patient voice.
It is no longer a surprise that the FDA, a U.S. institution that assesses and approves drugs, requires patient involvement in every step of research and drug development. Whereas blood tests, MRIs, and clinical tests were previously the primary objective measures of disease, now the patient voice describing how the patient feels and functions is becoming an equally important consideration.
The 2020 “Our Voices Survey”, which so many of you completed and the results of which were shared in a meeting with the FDA, was a step towards highlighting the ways people with PSC feel and function in different phases of disease. If a new drug improves how a patient feels and functions, this improvement matters to the patient.
Researchers and the FDA are looking for ways to quantify how patients feel and function through standardized and disease-specific surveys that measure patient-reported outcomes (PRO). PSC Partners has hired two PRO experts to follow the lengthy scientific process in building a PSC-specific PRO for use in clinical trials. Some of you have participated in focus groups and interviews with these experts; your input is greatly appreciated.
Accelerating Drug Development
Hearing that the Registry now holds well over 2500 participants, drug developers consider our rare disease as a possible area to research. One memorable example of the impact of the Registry took place in Paris, at the 2018 International Liver Congress organized by the European Association for the Study of the Liver (EASL). A drug developer, curious about our modest patient booth that was surrounded by large, elaborate pharma booths, eagerly listened to our description of the Registry. A few hours later, he returned with his colleagues, who were excited to have discovered a rare disease in their field with easy access to patients.
The Registry has pulled patients into the clinical trial space, which previously had been closed to us. Thanks in part to the Registry, PSC Partners has developed relationships with dozens of pharmaceutical and biotech companies. Based on data you provided, studies and posters have been presented in large international hepatology conferences. Pharmaceutical companies are coming to us earlier and earlier in the process of planning their clinical trials.
What is your contribution to this process? Through the Registry, you have been telling us why you join clinical trials, what prevents you from joining, and how clinical trials could be improved to make them easy to join. We bring them your suggestions and concerns and ask them to make specific changes. Most have never met a PSC patient. We organize meetings so that those who develop the drugs and run the trials hear our stories and can ask questions. They tell us that meeting patients and understanding their unmet needs have added meaning and urgency to their daily work. And, very importantly, we help them recruit patients from the Registry so they can conduct their clinical trial.
Researchers at the PSC Center of the University of California in San Francisco (UCSF) described the Registry data as “a gold mine” and are collaborating with us to publish your data. The publications represent an important milestone: they fill an important gap, as very few academic papers exist on the PSC patients’ voice. Through this collaboration, the patient voice is being translated into scientific, peer-reviewed literature, which we will continue to make available to you as soon as studies are published.
Thanks to your participation in the Registry, there is more interest in PSC research, greater awareness of PSC and of patient needs, and better clinical trials. Thank you for responding to our requests. YOU are making an impact!
Together, we are creating a world where a PSC diagnosis comes with a cure!