Community-Driven Registries Drive Understanding Of Rare Diseases

By Kevin Flaherty, MD, MS, steering committee chair, Pulmonary Fibrosis Foundation (PFF) Registry

Effective and impactful patient care is rooted in prior experience and research. Personal anecdotes, real-time information, and varied perspectives enable healthcare providers to make more informed decisions about how they provide optimal patient care. However, for rare diseases like pulmonary fibrosis (PF), a progressive, debilitating lung disease for which there is no cure, more research is needed. Additional research will aid medical professionals with the struggle to care for and treat each patient. In an effort to increase and diversify research, the Pulmonary Fibrosis Foundation (PFF) envisioned a new approach to aggregating usable medical data — asking patients directly.  

The Current State Of Research For Pulmonary Fibrosis

Pulmonary fibrosis is a chronic lung disorder identified by thickening, stiffening, and scarring of tissue within the lungs. Over 250,000 Americans are living with PF today, and approximately 50,000 new cases are diagnosed each year. Unfortunately, robust data on PF risk factors and medical strategies to identify patients at risk and make an early diagnosis have not been available.

In 2000, the PFF was founded to fill the gap in general knowledge around PF and to connect patients with clinical trials, effective treatments, and support systems. With a mission to accelerate research and improve the quality of life for patients and their loved ones, the PFF started the PFF Patient Registry in 2016, collecting data from 2,000 patients treated at Care Center Network (CCN) partner facilities throughout the country. In 2022, the organization launched the PFF Community Registry to complement the data collected by clinicians with self-reported information from patients living with PF, including those who have received a lung transplant, as well as the caregivers and family members of those with PF.

Evolution Of The PFF Registry

Medical registries, or collections of patient data, are an effective tool to help fill information gaps. For rare diseases especially, registries generate a direct pipeline between patients’ experiences and healthcare providers’ approaches to delivering care. While registries provide crucial medical information, it’s important to note these programs are not prescriptive in dictating care, but rather serve as a system to collect observational data for research purposes. 

The initial PFF Patient Registry, which operated through 2022, relied on site investigators to enter medical and demographic information on patients enrolled in the Registry. Since the information was collected through study centers (CCN sites), patients needed to be cared for on-site, with their specialists, to provide information. This requirement had the potential of limiting the ability of some patients to participate and it was very costly to reimburse sites to enter data.

With goals of increasing access while decreasing costs, the PFF changed the Registry protocol to collect data directly from patients, family members, caregivers, and recipients of a lung transplant without the need to be seen at or have their data entered by a study center. This version has been called the Community Registry and relies on a broader scope of information that comes directly from the patient and affected individuals, rather than through a study center. This allows the potential to capture a larger and more diverse segment of the patient population, which can provide valuable insights to researchers. Participation in the Community Registry is voluntary and can be completed online at the patient’s leisure. Like the PFF Community Registry, there are similar initiatives for rare diseases such as congenital muscle disease, cystic fibrosis, and ALS.

Participants in the PFF Community Registry complete a bi-annual survey online via a secure and easy-to-use portal, and there is no cap on how many people can participate, meaning the scope for data collection is limitless. The survey takes around an hour to complete and asks questions about basic demographic information, medical history, symptoms and quality of life, environment and occupational exposure, diagnostic information, medicine/treatments, and more. To make sure the information included in the Community Registry is relevant and up to date, members are asked to update their profile every six months.

How Will The Community Registry Impact Research?

Through its commitment to embracing a more inclusive definition of patient experiences, the PFF Community Registry is poised to revolutionize medical data collection within the field through various means:

1. The Community Registry has the ability to increase the pool of potential participants across demographics including age, race, ethnicity, gender, sexuality, class, and geography. By capturing a more diverse pool of participants, HCPs and researchers can obtain a more accurate picture of how PF exists within the population.
2. The program also captures a more holistic picture of how PF impacts not just patients but also those that surround them. That’s why, in addition to people living with PF, the Community Registry collects information on biological family members, caregivers, and transplant recipients. This is a unique feature among registries, which typically rely solely on the patient.
3. Finally, the Community Registry is empowering the PF community to engage and play an active role in driving research. Like many rare diseases, being diagnosed with PF can be destabilizing, and often leaves those impacted feeling powerless. The Community Registry creates a space Where subjects can volunteer to be contacted for additional research projects and clinical trials to further participate in research.

How Registry Data Is Used

What starts as patient responses becomes vital data that expands research and guides decision-making. The 40 studies currently supported by PFF Patient Registry data would have cost $32 million to do independently.

For example, the PFF Registry has been instrumental in the PRECISIONS study, which aims to transform the diagnosis and treatment of idiopathic pulmonary fibrosis (IPF) by moving it into the era of precision medicine. In partnership with the PFF, the study is supported by a $22 million grant from the NIH and the Three Lakes Foundation, a philanthropic family organization.

Another research study utilizing the Patient Registry was published last October looking into if patients living in rural areas of the country have worse outcomes compared to urban areas. Associate Professor of Medicine and Director of the Interstitial Lung Disease Program at the University of Minnesota, Minneapolis Hyun Kim, MD, used the data to map patient ZIP codes and classify whether they live in an urban or rural area. Through this data, Dr. Kim and her team were able to compare the severity of these patients’ outcomes based on their locations.

Future Of The Community Registry

To date, there are more than 1,800 participants in the PFF Community Registry, all of whom are providing valuable data to researchers and medical professionals. In the coming years, the PFF is looking to incorporate new features and connect participants with additional resources. For example, since the Registry is virtual, the PFF can contact participants with important research updates or new questions in real time. Additionally, the PFF is working to incorporate a geographic feature that connects patients with clinical trials in their area. Bigger picture, the PFF Community Registry is just getting started. In the future, we would like to collect biosamples and radiographic imaging.

The PFF Community Registry is fostering a network of patients, lung transplant recipients, caregivers, and family members all with the same goal — finding answers to better diagnose, treat, and potentially cure PF. By increasing access to data and information, the Community Registry helps ensure that clinicians and researchers understand the diverse experiences, across demographics, to improve the quality of care for those living with or impacted by PF.

Anyone interested in participating in or utilizing data from the PFF Registry can visit pffregistry.org.

 

About The Author:

Kevin R. Flaherty, MD, is a professor of medicine in the Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine at the University of Michigan in Ann Arbor, MI. Dr. Flaherty is the director of the Interstitial Lung Disease program, serves as vice-chair of the Medical School Institutional Review Board for Human Subjects Research, and is the steering committee chair for the PFF’s Care Center Network and the PFF Registry.