For many rare diseases, progress towards the development of new therapies and cures is stymied by several factors, including a lack of disease understanding compounded by small patient populations, challenges to correctly diagnosing and identifying patient for trials, a lack of clearly defined clinical endpoints, and difficulties in leveraging real-world data due to poor data standardization for key rare disease characteristics.

In this series of blog posts, we have identified several ways patient advocacy organizations can use their convening power, patient network, and high-quality registry data to overcome these challenges and accelerate the development of new therapies in a way that keeps the voice of the patient central to the process.

The Role of Patient Organizations: Development and Adoption of Data Standards for Rare Diseases

Patient Advocacy Organizations Can Help Drive Earlier Diagnosis for Rare Disease

In this article, we will focus on options for rare disease patient advocacy organizations to seek sustainable funding for the build, expansion, and/or maintenance of a patient registry.

Potential Benefits of a Patient-Centric Rare Disease Registry

Many rare disease patients have no treatment options due to several factors, including poor disease understanding, lack of clearly defined clinical endpoints, lack of industry funding, and low patient numbers. A registry can be designed to generate interest and accelerate activity in a particular disease indication by improving our disease understanding, helping to identify and quantify unmet needs in the patient population, and supporting patient engagement and trial recruitment.

Significant Challenges Around Build & Maintenance Costs

Creating and maintaining a high-quality patient registry, however, can be expensive, and rare disease patient organizations often have limited funding and staffing resources to devote to a registry build. Additionally, downstream monetization of a registry is often even more challenging for rare diseases where pipeline activity is limited, meaning there are fewer life science companies interested in paying for services based on the registry data or network.

Given these challenges, many rare disease patient advocacy organizations are carefully designing their registry strategies to maximize their chances of securing sustainable sources of funding and revenue to support the creation and long-term maintenance of their registry programs.

How Patient Advocacy Organizations Can Find Support:

Start Small and Expand

Given the significant value a registry can provide, it may be tempting to try to create your ideal registry from day one. However, an ‘everything all at once’ strategy comes with significant risks. Doing too much at once is financially risky because you are banking on a return on investment that will likely not materialize until the market matures. Instead, we recommend starting with a smaller, more targeted approach that can be scaled up as the market changes and interest in your data and network grows. Then, initial revenue and other subsequent funding can be reinvested into your registry program to improve your data capture and add build out additional functionality (e.g., enriching PRO data with EMR data). It can be challenging, however, to balance the expediency of starting small and expanding with the level of data required by life science companies to gain their support for the registry.

For rare disease organizations, use cases that can be enabled by an early-stage registry tend to include:

• Custom surveys
• Market & patient insights (e.g., through the collection of patient-reported outcomes)
• Trial awareness
• Trial matching and other recruitment support

Consider a Pre-Competitive Consortium Model

Given the lack of data available for many rare diseases, life science companies with active or upcoming development in those disease areas seek opportunities to enrich their understanding of the disease and to gain access to patients for trials. Many companies are therefore likely to be interested in financially supporting patient-advocacy-led registry effort given their strong relationships with patients and convening power across the industry, and due to the support this approach has received from regulators.

Given the key unmet needs for data and patient access in rare diseases and lack of other available options, life science companies can often be encouraged to invest early in a planned registry to help support the build, especially if they can also receive preferential access to the data. However, to secure that support, each company will need to be bought into the vision for the registry and see (through a thoughtful business plan and roadmap with measurable outcomes) how the registry will meet their own current and future needs.

One option we recommend for lining up this support is a pre-competitive consortium membership model. In this model, select life science partners are invited to contribute to the design of the registry and receive early or exclusive access to some of the data, in exchange for financial support. The terms of the membership model, including how many members will be permitted to join, the amount of financial support required, the data governance approach, and the benefits received, can vary significantly based on the preferences of your organization and the needs and preferences of your potential members.

Take Advantage of Resources Provided by Other Pan-Disease Organizations

Some organizations offer hands-on support for patient organizations looking to launch a new registry, including information about third-party funding opportunities. Genetic Alliance’s Registry Bootcamp program, for example, takes organizations through cost-related considerations, and provides links to multiple funding opportunities for organizations to consider.

Aligning Capabilities to Industry Needs Can Help Accelerate Therapy Development

Organizations with rare disease patient registries also have an opportunity to accelerate therapy development by anticipating and supporting key future industry needs. Specifically, many life science organizations developing rare disease therapies will likely be required to collect post-market surveillance data on a subset of patients to demonstrate the safety and efficacy of their products. This is especially likely for therapies that received accelerated approval, and for cell & gene therapies, both of which are more likely to prompt regulatory requirements to conduct post-authorization safety studies or long-term follow up studies.

Setting up these studies can be extremely expensive, and smaller life science and biotech companies will struggle to support them independently. Patient advocacy organization registries could serve as a neutral, product-agnostic infrastructure to support multiple long-term data collection efforts.

To support regulatory requirements, rare disease registries would need to have high-quality, clinically rich data and ongoing connectivity with patients and/or physicians. These functionalities are not easy to build out, but they are doable with the financial support of multiple partners. Additionally, a rare-disease registry that demonstrates its ability to support these long-term data collection efforts with regulatory-grade data will likely have a strong source of revenue for years to come.

Starting the process of engaging with potential industry partners can seem daunting, but you don’t have to come to the table with all the answers. Instead, starting this process can be as simple as sitting down with life science brand leads, researchers, and medical advisory staff to share your registry vision and garner interest in further engagement as the plans for the registry progress.

For more information on how to evaluate the sustainability options for a registry build or expansion in your rare disease area, please contact Alexandra Weiss, Director, Strategic Operations, Patient Advocacy at alexandra.weiss@iqvia.com.

About the Authors

Harvey Jenner, Principal, IQVIA Real World Networks

In his current role, Harvey leverages his scientific background and healthcare consulting experience to assist medical specialty societies and patient advocacy organizations to enhance their data-driven capabilities, provide sustainable registry value, develop research offerings, and navigate the complex data governance of multiple registries.

Harvey has been with IQVIA for 7 years, managing large, global projects for pharmaceutical companies, providers, and other healthcare organizations.  Prior roles include data and evidence strategy and implementation roles in Real World Analytics Solutions. He has a BSc in Biology from Imperial College London. Harvey is based in San Francisco, California.

Jessica Preston, MPH, Consultant, IQVIA Real World Networks

Jessica joined the IQVIA Healthcare Solutions team in 2021 to support patient advocacy organizations and medical specialty societies in developing registry and data strategies that support their core mission while also contributing to organizational sustainability. Previously, Jessica worked as a research analyst supporting health systems and their partners with topics such as medical group medication management, specialty pharmacy, and health system service allocation.

Jessica received a Master’s in Public Health and a BS in Biomedical Engineering from the University of Virginia. She is currently based in Rhode Island.

Alexandra Weiss, Director of Strategic Operations, Patient Advocacy, IQVIA Healthcare Solutions

Alexandra Weiss has extensive background in patient advocacy and is a patient and caregiver advocate herself. Alex leverages her insights and knowledge to strategize and implement solutions for clients, enabling mission-driven capabilities through advocacy-led health data and research initiatives. Prior to joining the IQVIA team, she spent over six years leading industry relations and engagement for an oncology patient advocacy organization. During that time, she worked closely on the organization’s Scientific & Medical Initiatives, raised significant funds to drive progress, and represented the patient voice for industry hosted initiatives. Alex serves as the chair of her local hospital’s cancer institute board where she has been an active member for five years. She has spent over a decade in philanthropic leadership roles.

Alex has a BA in Psychology from Southern Methodist University. She is currently based in Long Beach, California.