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Patient registries are a hot topic in rare disease research and many organizations are taking advantage of this resource by registering their patient communities and connecting with researchers.

Eric Sid, MD, program manager for the Office of Rare Diseases Research (ORDR), said it’s difficult to estimate how many registries exist in the United States. In Europe, however, the online portal Orphanet counted a total of 812 regional, national, European and international registers. The number is at least as high or higher for the United States, Sid told BioNews, publisher of that website.

For advocates untrained in data science, setting up a registry can seem overwhelming. Legal issues and technological capabilities are among the many topics that need to be addressed.

The ORDR created the Rare Disease Registration Program – dubbed RaDaR – in 2019 to provide a starting point for those facing such a daunting task. Since then, RaDaR has evolved into an educational resource center that helps rare disease advocates develop their own patient registries.

At the center of RaDaR is its constantly updated website, which has been designed with ease of use in mind. Sections of the site focus on setting up and managing a registry, and each subsection has a resource page and links that add more information. A glossary makes it possible to define often unfamiliar terms such as “adeno-associated virus”, “biomarker” and “factorial assignment”.

Eric Sid, MD, speaks with Forbes Denny Porter, MD, PhD, Clinical Director and Principal Investigator at NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development, during a panel discussion at the Rare Disease Day 2019. (Photo courtesy of Daniel Soñé Photography)

“You can consider it almost like an encyclopedia, but structured to walk [someone] throughout the process of developing a registry,” said Sid, who, in addition to his role at ORDR, is program manager for RaDaR and the National Center for Advancing Translational Sciences (NCATS) Toolkit. for the development of patient-oriented therapies.

Scientists can also use RaDaR as a way to connect and work with a community of patients to develop a registry that could help answer a research question for this rare disease.

RaDaR was developed based on what was learned through the Global Rare Diseases Patient Data Repository (GRDR) program, established in 2010, which aimed to make patient group datasets more interoperable, Sid said.

The GRDR would have accomplished the task of bridging rare disease registries, for example by converting paper registries to some type of machine-readable format. It would have taken a lot of time and money to do this for all rare diseases.

“It wasn’t something we had the resources within our office to scale,” Sid said. “If we were to do that, you know, like 20 registries a year, you’d think we’d never get close to 7,000,” he said, referring to the approximate number of recognized rare diseases.

The GRDR program completed two two-year proof-of-concept periods to develop new rare disease registries and map existing ones before being replaced by RaDaR.

Sid, who has a master’s degree in health administration and has experience coordinating resources for affordable housing, joined NCATS in 2017, around the time he launched the Development Toolkit patient-centered therapies and that GRDR was evolving into RaDaR.

The toolkit website, according to Sid, was not user friendly. While it initially housed a collection of online resources about therapy development, it was difficult for patients or leaders of advocacy groups to find information about the process itself. Thus, the online portal has been redesigned, offering educational materials with a list of available tools.

This design approach was transferred to RaDaR when Sid and his colleagues were developing his website. The idea is to make the process more efficient for patients and lawyers. Instead of asking ORDR employees to repeatedly answer the same type of question, it made more sense to provide answers in one place in an easily digestible, web-based format.

“Essentially what RaDaR and the toolkit are trying to do is try to act as a framework for us to provide general answers similar to what people are looking for,” Sid said. “Rather than having to look in my inbox to find out where I sent this before, it’s all there.”

Although RaDaR has a lot of information, Sid makes sure it’s not overwhelming. Specific questions not answered via the website are directed to him or another member of staff.

RaDaR is frequently updated with new resources and educational information. According to the NIH description of the program, “RaDaR will serve as a living website.”

Sid doesn’t want RaDaR to duplicate what exists. Each section of the website has a resources page, pointing to information provided by other organisations, such as the World Federation of Hemophilia, EURORDIS Rare Diseases Europe, Global Genes and The Milken Institute, a non-partisan think tank .

Creating a registry can help connect patients with the same rare disease across the world and help researchers understand the natural history of a rare disease. With this kind of information, Sid said, scientists can learn and ask more questions about the data.

“If you don’t measure it, you don’t know,” he said.

A registry can also improve the efficiency of enrolling patients in a clinical trial and tracking their progress with experimental treatments. Clinical trials usually have eligibility criteria to include or exclude a patient, such as age, weight, and test results. Equipped with a registry, non-profit organizations can select patients who best fit these criteria and ask if they would be interested in enrolling. It’s a win-win for researchers and patient groups.

When developing a registry, Sid said, an organization needs to be transparent about how the data is used and build trust within the community it intends to serve.

“It is… important to ensure that patients have their voice represented in the way these registers are developed [and] how they are managed over time, but also that it is used to help support the goals of this patient community as a whole,” said Sid.