Move Over Pharma: Patient-Led Organizations Advance Rare Disease Clinical Trials

At the 2025 SCOPE Summit, industry leaders and patient advocates discussed a transformative shift in the pharmaceutical industry: patient-led disruption in clinical trials. The panel, featuring Craig Lipset from the Decentralized Trials & Research Alliance, Deirdre BeVard of CSL Innovation GmbH, Heidi Bjornson-Pennell from the Chan Zuckerberg Initiative, Nasha Fitter of Citizen Health Inc, Craig Martin from the Orphan Therapeutics Accelerator, and Tracey Sikora from the National Organization for Rare Disorders, explored how patients are evolving from passive participants to active leaders in drug development. This shift is crucial for addressing unmet needs in rare and ultra-rare diseases and promises to reshape the clinical trial landscape by fostering partnerships with patient organizations.

The Need for Disruption in Clinical Trials

The traditional shareholder-driven model often overlooks rare disease communities, prioritizing high commercial potential molecules. While effective for the majority, it fails to keep pace with scientific advancements, leaving many patients without viable treatment options. The panelists argued for a more inclusive approach, where patients are integral to the process, ensuring that all patient needs are met and addressing the gaps left by traditional pharma.

Patients as Leaders in Drug Development

Craig Lipset highlighted a paradigm shift where patients are not just participants but leaders in drug development. He recounted an experience where a patient advocate challenged the notion of pharmaceutical ownership in drug development, underscoring the need for a more inclusive approach. This shift is crucial as traditional models often leave rare disease communities behind due to their focus on commercial potential. Lipset emphasized the importance of integrating patient insights to keep pace with scientific advancements and ensure viable treatment options for all patients.

Nasha Fitter, co-founder of the Fox G1 Research Foundation, exemplified how patient organizations are stepping up to fill the void left by traditional pharma. Her foundation is developing a gene therapy for FoxG1 syndrome, a rare condition affecting about 1,200 children globally. Despite her tech background, Fitter has driven drug development, demonstrating the power of patient-led initiatives. Her organization has advanced its therapy to clinical trials with a $25 million budget, showcasing the efficiency and effectiveness of patient-driven efforts in areas neglected by larger pharmaceutical companies.

Innovative Models for Rare Diseases

Craig Martin discussed systemic issues leading to shelving promising therapies for rare diseases. The traditional model, designed for blockbuster drugs, often leaves rare conditions without viable options. Martin’s Orphan Therapeutics Accelerator addresses this by advancing therapies through alternative commercial models, focusing on scientific value rather than commercial potential. This approach aims to bring much-needed therapies to patients who would otherwise be left behind, addressing the commercial challenges and aligning with scientific advancements in rare disease research.

Martin highlighted the misalignment of incentives in drug development, with the process built around blockbusters rather than precision medicines for lower-prevalence diseases. Despite incentives like the Orphan Drug Act, rising capital costs have reduced investment in rare diseases. The Orphan Therapeutics Accelerator fills this gap by taking shelved therapies and setting different expectations for returns, ensuring valuable treatments reach patients, and addressing commercial challenges.

AI and Data-Driven Approaches

Tracey Sikora highlighted AI’s transformative potential in drug repurposing. Her nonprofit, EveryCare, uses AI to match existing drugs with neglected diseases, identifying new therapeutic opportunities. Sikora emphasized that AI can uncover missed opportunities by analyzing existing data to identify potential new uses for drugs. This method benefits rare diseases, where traditional models may not see value in investing. By leveraging AI and removing commercial constraints, EveryCare efficiently allocates resources to promising drug-disease matches, ensuring even the smallest patient populations have access to potentially life-saving treatments, exemplifying how technology can overcome traditional model limitations.

Building Capacity and Partnerships

Heidi Bjornson-Pennell emphasized the critical role of capacity building within patient organizations. These groups, often led by individuals with personal stakes in the diseases they fight, are essential partners in advancing research. However, they frequently operate with limited resources and require support to maximize their impact. By investing in these organizations, the industry can foster effective partnerships and accelerate progress in rare disease research, as demonstrated by patient organizations successfully advancing clinical trials. Bjornson-Pennell highlighted examples of patient organizations advancing clinical trials, demonstrating the potential for collaboration between industry and patient groups, empowering patients, and integrating their insights into the drug development process for more effective outcomes.

Summary

The SCOPE Summit 2025 underscored the transformative potential of patient-led disruption in clinical trials. By embracing innovative models and fostering partnerships with patient organizations, the industry can better address the needs of rare disease communities and drive meaningful progress in drug development. This shift promises to reshape the clinical trial landscape, democratize treatment access for neglected patient populations, and lead to a more inclusive and effective healthcare system.