How Registries Bolster Rare Disease Research

By Eric Gemmen, Senior Practice Leader, Epidemiology & Outcomes Research; Senior Director, Scientific Affairs, Quintiles Real-World & Late Phase Research

Patient registries have become a vital tool for clinical trials, giving researchers access to patient communities, advocates and real-world data to inform their protocols and improve their recruiting efforts. The impact of patient registries has been particularly beneficial for rare disease trials.

Rare disease research has become a popular development path in recent years thanks to a number of potential advantages, including fast-track approvals, tax breaks and extended exclusivity. These benefits, coupled with the opportunity to meet unmet medical needs, have contributed to a wave of rare disease drugs entering market.  In 2014 and 2015, the U.S. Food and Drug Administration approved an historic amount of orphan drugs for rare diseases. Many of these drugs have significant commercial potential thanks to their potential future use for other conditions.

Despite these benefits, rare disease trials are still among the most difficult trials to run. Because the target population is small and widely dispersed, recruiting is an ongoing challenge. It is also difficult to get a sense of common treatment patterns or success stories because these diseases generally do not have established well studied treatment guidelines, which further complicates the trial planning and delivery process.

However, patient registries can help them overcome many of these barriers.

Rare disease registries in which physicians, patients and caregivers record information and track details of the patient’s diagnosis, condition, and treatment, can help address many of the scientific and communication challenges faced in rare disease trials. Patient- and caregiver- reported outcomes provide a valuable glimpse into the patient’s quality of life – with and without different treatment options. These insights – which cannot be gleaned from labs or physician assessments – can shape the direction of investigations and help researchers validate the choice of clinical outcomes and targeted endpoints.

Registries also give researchers access to the stakeholder community, where they can connect with physicians, patients and advocacy groups to share information about their studies, build rapport with the broader patient community as well as more efficiently and cost-effectively recruit participants. 

These benefits can only be achieved if researchers make the most of this valuable clinical tool. Here’s how:

Maximizing registries: a five-step process

1. Start early. Building a patient registry and accruing meaningful data takes time, so the sooner researchers begin this process, the sooner they will have a robust population of patients and a collection of real-world outcomes to inform their research. Ideally, the registry should be part of the clinical development plan, and launched during pre-clinical or early phase research to maximize the impact and quantity of data.
2. Engage stakeholders. Patient registries can become a hub for patient and physician communities, which gives researchers the opportunity to make connections and share information about their work. However, it cannot be a one-way conversation. Researchers have to participate in conversations about the disease if they are going to build the trust of the patient community/network to facilitate recruitment and retention in clinical studies. 
3. Know what you want. To generate the most value, researchers need to set clear goals outlining what they want to accomplish in their research and how the registry can support those goals. Whether it is exploring clinical outcomes and the natural history of disease, validating patient-reported data, better understanding healthcare resource utilization or determining what the appropriate population for the clinical studies might be, having a plan with specific data requirements in mind will ensure that the right questions are asked.
4. Provide and collect feedback. A registry is not intended to be a passive database. It is a place where patients and advocates connect and communicate with each other about their disease. Researchers should take advantage of this networking opportunity by asking for feedback about what would make a clinical trial more appealing, and by providing information about the disease and ongoing research that participants will find valuable. Participating in this two-way dialog can help the research team build trust and demonstrate to patients that the team is invested in addressing their healthcare needs.
5. Make and maintain connections. In rare disease research, as in all research, every patient is important and researchers cannot afford to lose any of them due to poor follow-up or miscommunication. To keep patients engaged, potentially for years at a time, researchers need to stay actively involved in the registry, sharing updates about study progress and reporting outcomes where appropriate. Patients want this information, and sharing it on the registry creates opportunities to have conversations about the work and potential future study opportunities.

Registries are an invaluable tool to any clinical research program, but for rare disease research, they act as a lifeline between patients and the researchers trying to help them.