RARE Toolkits

Below is a list of all of our current RARE Toolkits.


Section 2: The Purpose of a Registry


Registries can be different things to different people and organizations. Families may see a registry as an educational tool to better understand symptoms making their child sick. Research institutes and universities may see registry data as a way to validate animal studies, or to establish once overlooked disease endpoints for further clinical research. Pharmaceutical or biotechnology companies might want to establish disease progression or burden, or supplement data of the necessarily small clinical trials. Regulators such as the FDA are now accepting registries as part of the marketing approval requirements.

Quote Mark

“I think of a rare disease registry as a tool for research,” said Catherine with CoRDS, looking at the big picture of why registries matter. “Part of the reason for a rare disease registry in the early stage of research is proof of concept. An advocacy group is able to demonstrate to a clinical researcher that it has a legitimate population and carefully collected data and consent from patients to review their data, among other benefits. The registry essentially provides evidentiary material and justification for a research study.”


What Value Do You Seek from the Data?

On a day-to-day basis, the purpose of a registry is to follow the progress of participants over time, with an eye toward tracking and documenting the prevalence, progression, and trajectory of a disease.

Over several years, the data can paint a picture, a natural history, showing how a rare disease or disorder evolves as people age, thereby providing valuable information not only about the onset of a disease, but insight into how symptoms change as individuals age.

Thinking upfront about what use, analyses, or value you hope to obtain from the registry is critical to designing the registry and planning its scope and goals over time.

For example:

•Patients may create insights they had not known were common;

•A registry might need to focus on natural history in its early stages that may help with pivotal clinical trials for a treatment; or

•A rare disease registry might create a long term history for every patient and become a valuable tool for disease management for both physicians and patients.

•The various goals and insights from a registry can vary across the multiple stakeholders, particularly patients, researchers, and biopharma companies.

Patient Insights on Registries

Insights from registries may result in new approaches to research by uncovering common traits, behaviors, and symptoms that may guide researchers into areas that they had not previously considered. These insights may also change the standard of care for patients. For instance, if we know that many people with a certain rare disease are struggling with a previously unrecognized condition that can be presented to medical specialists and change the standard of care for that disease.

Families grappling with a rare disease understand that registries are a crucial step toward finding drug treatments and cures, adds Megan of the Phelan-McDermid Syndrome Data Network registry. They also know they may not live to reap the long-term benefit. That’s why she likes to remind rare disease advocacy organizations, patients, and families that registries also serve a valuable purpose in the here and now.

It also enables families to be better advocates for a child or loved one. For instance, Megan notes that through Phelan-McDermid Syndrome Foundation’s registry, families have learned that 40 percent of the kids have funky toenails. Eighty percent have a sensory disorder that prevents them from feeling pain. The information is not necessarily useful to researchers, but it is of great value to parents because they know they are not alone.

Quote Mark

“The registry provides us with vital ammunition in the ongoing battle with medical professionals unfamiliar with rare disorders, or with the 'powers that be' in the local school system where educators often refuse to provide one-one assistance,” Megan said. “Suddenly you are not some crazy mom making outrageous demands for extra care or special education services or one-on-one supervisory assistance. Instead, you are a concerned parent communicating undeniable research findings.”


Researcher Insights on Patient Registries

Test tube rack in a laboratory

Researchers in a rare disease often are starting from a point of limited or no data collected, limited published literature on a disease, and a challenge of identifying patients for ongoing clinical trials.

As a result, researchers in both academia and industry have a mutual interest in seeing a rare disease registry created. Often researchers may start one locally within their own set of patients, and this may be as simple as starting a database file.

In comparison with the real life patient experience that patients find the most significant (e.g. Can a patient go to work? Walk? Perform daily activities?), clinical researchers that have successfully studied animal models want to begin to understand the disease progress from various perspectives including molecular, genetic, and clinical.

 In the early stages of research, a disease registry can provide a vehicle to potentially assist with all of these questions. In planning a registry, it is important to consider the role of both patient reported experience and the complex clinical data required for research physicians and biostatisticians to study and publish on the clinical data as quickly as possible. Creating a registry that speeds this process is a critical foundation for establishing the baseline understandings needed for treatment development.

As research and treatment options progress, the registry can evolve to start evaluating treatment outcomes across a disease population.

Industry Insights on Patient Registries

Many rare disease companies sponsor, operate, and publish analyses from registries. There are numerous examples where a company working to develop and approve a treatment will create and sponsor a registry for all the same reasons as academic researchers.

The key rationale from the industry and regulatory perspective is two-fold:

First, rarity necessitates unusually small numbers of patients in the Phase 2 and Phase 3 trials; and

Second, most promising rare disease treatments will file their regulatory applications for “accelerated approval” due to the urgent, life threatening impacts on patients.

This is considered a known risk-benefit in rare disease treatment development. As a result, a vital question will remain, even after a full Phase 1, 2, and 3 clinical program: “What will the impact of this treatment be on the rest of the community that was not part of the clinical trials?”

The answer to that is to study and monitor the entire disease community. Thus the disease registry used in the early days to help basic research and locate patients now evolves into a critical component of treatment approval for a sponsoring company.

This situation then leads to regulatory authorities requiring “Post Marketing Commitments” to be monitored and studied for long-range time periods (a decade or more in many cases), and companies agreeing to create, support, or extend a disease registry.

In this context, regulatory authorities recognize that registries are excellent vehicles for companies to study the long-term outcomes and safety of a product after the Phase 3 trial has been submitted and the product approved for commercial use.