Components and Considerations for Disease Registries

Disease registries are tools to collect, store, retrieve, analyze, and disseminate clinical and outcomes data for a predefined patient population. Registries can be sponsored by professional medical societies, patient advocacy organizations, government agencies, non-profit organizations, private companies, or healthcare facilities. While there is no centralized source that lists all registries available in the United States, the National Institutes of Health and National Organization for Rare Disorders have a comprehensive list of registries for both prevalent and rare diseases. Over forty of them were designed specifically for rare and ultra-rare diseases.

Establishing a disease registry is a multi-step process that requires a clear purpose and scope, assembly of a multidisciplinary team, a thoughtfully designed data collection, establishing governance and oversight plan, and analysis and dissemination of findings. The patient population to be enrolled in the registry must be clearly defined before enrollment begins. Participants may enter a registry during a normal course of care such as through newborn screening programs, through recruitment into a research study, or through voluntarily participation in a self-identified registry.

Disease registries serve many purposes and have the potential to support researchers and manufacturers with drug development programs, inform the design of interventional and observational studies, enhance understanding of the natural history of a disease, and support the selection of appropriate endpoints and biomarkers that are associated with clinically meaningful outcomes. Furthermore, registries provide additional insights into an intervention (e.g., drug, device) and its efficacy and safety in populations underrepresented in clinical trials.

Multiple stakeholders can be involved in establishing disease registries, including regulatory agencies, patient advocacy groups, clinicians, key opinion leaders, scientists, payers, patients, and their caregivers. Collaboration between these stakeholders can drive not only research and development of new treatments but also lead to public policy changes and promote access to treatments. Various organizations around the world, including the National Organization for Rare Disorders in the United States recognize the challenges associated with data collection and clinical trial recruitment for rare and ultra-rare diseases, and have thus become advisors and supporters of rare disease registries.

Registries for Rare and Ultra-Rare Disease

While drug developers in the rare and ultra-rare disease space face many unique challenges, registries can help address some of them (Table 1).

Table 1. Registry Benefits for Rare and Ultra-Rare Diseases

Although registries provide significant opportunities, they do face headwinds:

• Disease registries lack the randomization factor, which has the potential to produce a skewed sample and biased data.
• Many registries exist in silos and there may be duplicate registries for the same condition, meaning that there is no centralized repository for the already small patient populations’ data.
• There is significant variability in the depth and consistency of patient participation in registries.

Coordination of efforts among all stakeholders involved in registries, proper data management, standardized data collection methods, participant education, and confidentiality assurances are among the most important areas when planning and implementing disease registries. Before establishing a registry or leveraging an existing registry, drug manufacturers and diagnostics companies should have a comprehensive plan in place to ensure the data is of the highest quality and that the registry’s approach aligns with their clinical development program goals.

Deeper Dive

At Avalere, we apply our expertise in evidence generation planning and market access strategies to help stakeholders meet their business objectives through effective commercialization.  To learn more about addressing unmet needs in rare and ultra-rare disease and develop comprehensive clinical development programs and evidence generation strategies, connect with us.