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The Growing Trend of Patient-Led Clinical Research in Rare Disease

By: Juliane Mills, Senior Director, Therapeutic Strategy Lead, Rare Disease

The rise of patient-led clinical research, particularly in rare disease, represents a significant shift in the clinical trial landscape. Increasingly, patients and patient-led organizations are playing a pivotal role in shaping drug development, underscoring the importance of collaboration between patient organizations, CROs, and pharmaceutical and biotechnology companies.

These patients and patient-led organizations are focused on getting their community ‘clinical-trial ready’ by funding preclinical research within their network of academic researchers and designing and running their own registries and natural history studies. Their goal is to make their disease a viable target for a drug development pipeline by developing research tools, such as cell lines and animal models, and generating baseline and medical history data to help with trial design. This work is driven by necessity to generate enough information for drug development companies to consider the disease as a therapeutic target in their pipeline.

Why Is There an Increase in Patient-Led Rare Disease Research?

This increase in patient-led clinical research can be attributed in part to shifts in regulatory agency efforts and the growing influence of patient organizations.

Greater Engagement with Regulatory Authorities

Regulatory agencies, including EMA and FDA, are focused on building strong relationships with patient communities and organizations. Through relationship-building and increased engagement, regulators aim to improve their understanding of the ‘lived experience’ of patients with rare diseases and hear their top concerns. In this way, regulators can evaluate proposed trial designs and therapies in terms of what value the trial will provide to participants and how well new treatments might serve the affected populations.

The FDA, for example, has supported internally and externally led meetings and regularly hosts and attends meetings that include rare patient organizations as key attendees and/or co-presenters. For example, Voice of the Patient and Patient-Focused Drug Development meetings are focused on one disease or a group of similar diseases. These meetings are designed for attendees to hear testimonies from clinicians, patients, caregivers, and families about the issues facing these stakeholder groups in the diagnosis, treatment, and long-term prognosis of a disease as it is experienced in real life – not through an impersonal, peer-reviewed case report.

Regulatory infrastructure has also played a role in this shift, such as the Orphan Drug Act and the FDA’s Rare Disease Innovation Hub in the US – as well as the PRIME scheme and the European Joint Programme on Rare Diseases in Europe. These types of initiatives provide frameworks and support for rare disease research, further encouraging a more inclusive and responsive clinical research ecosystem.

Engaging with the Patient Community

For the past several years, engaging with patient communities has become increasingly crucial for sponsors, as early involvement of patients can provide drug developers with valuable insights that enhance trial designs, optimize resource use, and improve overall outcomes. This proactive approach allows sponsors to address patient needs more effectively and streamline the development process.

However, this rise in patient-led research has also shifted the relationship between advocacy organizations and sponsors. Previously, organizations had limited influence on the direction of basic research, clinical trial designs, and data ownership. Today, patient organizations have considerable financial resources and can play a significant role in de-risking clinical research by funding studies and contributing valuable expertise about specific rare indications, such as their heterogeneity, phenotype, manifestation, time of diagnosis, specialties required for care, and more.

For instance, the Alpha-1 Foundation has a Therapeutic Development Network to combine its patient registry and network of treatment sites to support drug developers in their trial design, site selection, and patient recruitment. In another example, the Foundation for Angelman Syndrome Therapeutics, which currently runs a disease registry and natural history study, has also created and led the Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM) to develop endpoints and biomarkers sufficient for clinical trials.

The Evolution of Patient Organizations

Over time, resources available to patient organizations to support capacity building and collaboration have grown through umbrella organizations, such as the National Organization for Rare Disorders (NORD), the European Organisation for Rare Diseases (EURODIS), the International Rare Diseases Research Consortium (IRDiRC), and Global Genes. Ready access to fundraising tools, such as social media, has also helped these organizations improve their own fundraising capabilities, providing groups with greater financial resources to develop their own research and patient-led initiatives. The increase in funding has had a direct impact on clinical research, enabling more patient-funded preclinical research and, in some cases, even funded clinical trials.

Moreover, as these organizations expand in size, geographic reach, and capabilities, they create more opportunities for sharing knowledge and lessons learned. As a result, rare disease communities have a more connected and informed network. In fact, several rare disease groups have combined their efforts by coordinating collaboration across their respective academic research networks and sharing operational challenges, such as surveying the community for research priorities.

One such successful collaboration is the Developmental Epileptic Encephalopathy-Project (DEE-P) Connections, which has brought together over 45 advocacy and research groups to address the needs of people living with and affected by DEE. This group is also leading the Inchstone Project, focused on developing outcomes assessments with the sensitivity appropriate for patients with DEE and outcomes to capture what is most meaningful to patients, families, and care providers.

What Does This Increase Mean for Sponsors?

As patient-led research continues to gain momentum, sponsors should consider how they can partner with these organizations in risk sharing and development. These organizations have shown how valuable they can be to the generation of meaningful scientific research and should be rewarded for this through support and collaboration.

Expanding the Network of Financial Partners

One difference in patient-led organizations is that they now request funding through venture capital channels. For sponsors, this change presents an opportunity to expand their network of financial partners and collaborate with organizations that are actively investing in research. One example of this is that rare disease patient organizations have the ability and incentive to invest in endpoint development, a task that drug developers may be reluctant to take on since the ‘safer’ strategy is to use an endpoint that regulators have already used for product approval.

Worldwide’s Partnerships with Patient-Led Organizations

At Worldwide Clinical Trials (Worldwide), we recognize the profound impact our partnerships with rare disease patient-led organizations can have on drug development. In fact, patient-led organizations are increasingly taking the lead in site engagement rather than the other way around. Discover more about this industry shift in our blog.

Our rare disease experts have established partnerships with over 115 rare disease organizations that operate nationally, regionally, and globally. These collaborations are not transactional but are built on a foundation of long-term, mutually beneficial relationships, similar to the way we engage with drug development sponsors. By valuing each other’s contributions, we boost our ability to advance rare disease clinical research and improve patient outcomes, making the sum of our efforts greater than the individual parts.

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