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The Role of Patient Registries in Rare Disease

The treatment and research of rare diseases are plagued with unique challenges and limitations. Among those, the scarcity of patients exhibiting these conditions across national landscapes is one of the most difficult for those researching and providing treatments for patients with rare diseases. Further, due to the rarity of these conditions, stakeholders with relevant knowledge and experience are also increasingly dispersed across countries, and often the world. As such, there is a unique need for cooperation and shared infrastructure in the field of rare diseases (Gliklich et al., 2014). Patient registries present an exceptional opportunity to address the needs of the rare disease world through the “systematic collection of clinical, genetic, and biologic data” through longitudinal data compilation (Gliklich et al., 2014, p. 113).

This type of resource utilization can also be seen as social pharmaceutical innovation as the researchers here harnessed the tools that were accessible to them to allow for the development of knowledge, drug access, and resource allocation for those with a rare disease through inventive and socially-conscious methodologies.

Patient registries are “collection[s] of data that may be analyzed without performed objectives” (Sirrs et al., 2021, p. 272). Patient registries are thereby critical tools for developing a comprehensive knowledge base and understanding of rare diseases which are often incredibly heterogenous and difficult to study (Gliklich et al., 2014). It is also important to consider that any registry endeavour has a number of critical stakeholders, who may share convergent but also divergent agendas (Gliklich et al., 2014). Stakeholders who may be involved in the development of registries include, but are not limited to, patient advocacy groups, regulatory agencies, clinicians, scientists, industry players, payers, and individuals affected by specific diseases (Gliklich et al., 2014).

In the rare disease world, however, patient registries have primarily been developed by pharmaceutical companies and thereby used as marketing tools, instead of research methodologies (Sirrs et al., 2021). Because of this, rare disease patient registries have often been optional and therefore face limited patient enrollment (Sirrs et al., 2021). Further, because they are owned and monitored by individual pharmaceutical companies, the data on these registries is not shared and not widely distributed (Sirrs et al., 2021). This poses a limitation to the treatment and study of these rare disorders as the registries are not accessed by clinicians, doctors, or researchers who may want to use these datasets to connect affected patients and families, to learn about the natural history and outcomes of these diseases, to support research, or to establish a patient base for evaluating drugs or orphan products (Gliklich et al., 2014).

Sirrs et al. (2021), therefore, propose an alternative means of developing patient registries so that these registries can actually support and promote the research and treatment of rare diseases. Through their experience in developing an independent patient registry for those with Fabry disease in Canada, Sirrs et al. propose that patient registries “should be focused on the rare disease rather than the drug to allow registry data to inform other areas of resource allocation” outside of simple drug distribution (Sirrs et al., 2021, p. 270). Their solution, therefore, is the mandatory enrollment of all patients receiving publicly-funded treatment into a registry, and that all patients with a specific condition, in this case Fabry disease, had to enroll in the registry in order to be eligible to receive coverage for their rare disease treatment (Sirrs et al., 2021). This methodology allowed for almost the entire Fabry population in Canada to enroll in this single registry, allowing for improved research outcomes. It may be useful for other rare disease treatments to consider this type of enrollment as well.

It is these types and initiatives -and others- that we will be examining in the SPIN project generally and the Canadian component of the project specifically, so stay tuned.



Gliklich, R., Dreyer, N., & Leavy, M. (2014). Registries for evaluating patient outcomes: A user's guide (Third Edition ed.). Outcome Sciences, Inc. registries-guide-3.cfm.

Sirrs, S. M., Arthus, M. F., BIchet, D. G., Rockman-Greenberg, C., LeMoine, K., Morel, C. F., Lachmann, R., Lynd, L. D., Wasim, S., West, M. L., & Hollak, C. (2021). Independent registries are cost-effective tools to provide mandatory postauthorization surveillance for orphan medicinal products. Value in Health, 24(2), 268-273.


Written by: Shir Grunebaum (MA), and Conor Douglas (PhD)

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