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Outlining Values for Patient Registry Development

Patient registries are an increasingly important medium in the rare disease research and development environment as they provide a pivotal opportunity for developing real-world evidence, increasing patient access to treatments, and engaging with patients as key stakeholders in the drug development process. Patient registries and the importance of these for patients with rare diseases have been discussed in an in-depth manner in one of our previous blog posts, published over a year ago. This blog post can be viewed here.

Patient registries are “collection[s] of data that may be analyzed without preformed 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 heterogeneous and difficult to study (Gliklich et al., 2014). In fact, in a recent Canadian Organisation for Rare Disorders (CORD) webinar which was held on May 3rd, Durhane Wong-Rieger, President and CEO of Optimising Health Outcomes and President of the Canadian Organisation for Rare Disorders, stated: “patient registries are core to everything from patients having knowledge and being able to be an informed participant in their care all the way through to being able to stimulate research and new developments”.

When developing registries, there has been a growing movement to develop comprehensive registries that are independent of any specific drug or therapy. Instead, many rare disease advocates and researchers are urging that patient registries would benefit from becoming more inclusive and that it would be valuable to use all the existing registries to develop a unified and comprehensive registry.

However, as research in the field has progressed, and as more and more localities, particularly in Canada, have refocused their efforts on developing more comprehensive patient registries, a Canadian organisation called ‘Inform Rare’ has outlined six values that must underpin patient registries.

Inform Rare is a Canadian research network that “is co-designed by patients and families, health care providers, policy-makers, methodologists and research ethicists” (Inform Rare, 2022). This network particularly focuses on the development of recommendations for the improved care of children with rare genetic diseases. However, these outlined values must be more widely incorporated and used to develop socially responsible and innovative patient registries for all rare disease patient populations.

According to the values presented by Inform Rare, patient registries must be sustainable, accessible, scalable, provide public benefit, provide benefits to patients and families, and build the capacity for research. When thinking about sustainability, Inform Rare urges all those who develop registries to ensure that they provide long-term use and maintain relevance. Patient registries must all be accessible to different networks, organisations, and individuals. Inform Rare also stated that in the Canadian context, patient registries and affiliated reports must be published in both English and French, and down the road the gold standard should be multilingual publications so that patients from diverse backgrounds may be able to access this information in a way that is meaningful to them.

Patient registries must also be scalable, as such it must be possible to add different disease groups to the same registry to ensure that other patient groups and clinicians can use the same platform to develop their own specific disease registries while also gathering data about rare disease patients and wider classifications as well. By allowing for increased scalability, patient registries place increased “value on the importance of understanding the natural history of diseases and being able to leverage that data and bring in that patient voice” (Hodgkinson, 2022).

Patient registries also significantly benefit from providing direct and clear benefits to patients and families through the provision of direct data access, allowing patients to compare their outcome measures to the standard expected measures and to aggregate patient data. In addition, patient registries must benefit families and patients by providing contact pathways for research engagement and participation. In addition, patient registries must also develop research capacity, providing natural history data to stimulate additional research interest and researcher knowledge.

Patient registries must also be developed for the public good, with all information being used and available for the development of treatments and initiatives which benefit patients and family members in a way that is socially responsible. This is one of the grounding principles of social pharmaceutical innovation (SPIN). Social pharmaceutical innovation focuses on the importance of developing treatments, pathways, and networks which engage with higher societal goals like addressing unmet needs lack of access to treatment, high prices, evidentiary mismatch, and equity. In doing so, projects that are defined as SPIN provide an important means of addressing unmet medical needs.

Through the development of stronger, more inclusive, and value-based patients registries, Canadian organisations will be able to “increase the capacity and the rigor of data collection so that it can inform regulatory practice and leverage the existing infrastructures so that it ultimately brings the patient perspective front and center” (Hodgkinson, 2022). As such, there is significant value in the widened application of these six values in the development of patient registries, and these must be integrated into future registries to ensure that these registries adequately and equitably address the unmet needs of patients with rare diseases.



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.

Hodgkinson, V. (2022). Canadian Metabolic Patient Registries. CORD Webinar - Rare Disease Patient Registries: Key to Drug Development and Access. Canadian Organisation for Rare Disorders. https://www.yo

Inform Rare (2022). Our Vision and Mission - Inform Rare. Inform Rare,

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.

Photo credit: Tirza van Dijk (2016). Person Entering Information Into Computer [Image].


Written by: Shir Grunebaum (MSc)

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