Amplifying the Patient Voice: Reflections from the World Orphan Drug Congress

At the World Orphan Drug Congress Europe in Barcelona, I had the privilege of moderating a keynote panel on a topic close to my heart: the influence of the patient voice in shaping clinical trials, policy, and orphan drug approvals. As the sole representative of industry on the panel, I found myself balancing two roles—coordinating the discussion while also reflecting on the industry's responsibility in rare disease treatment development.

The panel brought together an impressive array of voices, including policymakers, regulators, healthcare professionals, health technology assessment bodies and patient advocates. Together, we delved into the complexities of orphan drug development and the critical role that patient engagement plays in this process.

These are some reflections and key themes that came to mind during and after the session:

1. The Centrality of Collaboration in Rare Disease ecosystem

The development of rare disease treatments is an intricate process that demands collaboration from several and different stakeholders such as regulatory authorities, healthcare professionals and patient advocacy groups. Developers often find themselves at the heart of this collaboration, balancing diverse stakeholder interests while ensuring that the patient’s voice remains the focal point.

This collaborative model is essential for advancing innovation in rare diseases, and we must go beyond token engagements with patient communities. True collaboration means involving patients early in the process in a transparent and compliant way, listening to their needs, and adapting our approaches based on their lived experiences. Only through these dialogues can we ensure that the treatments we develop are meaningful and impactful: patients and carers know best the impact their diseases and potential treatments have in their everyday life.

2. Integrating the Patient Voice into Clinical Trials

A recurring question is how the patient voice truly shapes clinical trial design, conduct, and outcomes. Stakeholders like those on the panel play a crucial role in defining metrics for progress, particularly in conducting studies within small populations and leveraging this evidence effectively for regulatory approval.

Patients should not only contribute to trial recruitment and retention strategies but also be involved in trial design. By listening to patients early on, we can design trials that are more relevant to their needs, ultimately leading to better outcomes and smoother regulatory pathways. For example, in research for a rare bone disorder known as fibrodysplasia ossificans progressiva (FOP), patient groups like the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) have been integral in advocating for more patient-centric trial designs, emphasizing the importance of considering patients' daily challenges and preferences.1

3. The Evolution of Regulatory Frameworks and Global Collaboration

Regulatory frameworks have evolved to accommodate the growing importance of patient voices, particularly in the context of rare diseases. Global collaboration has enhanced the regulation of orphan drugs and the need for flexible, patient-centered policies that are fit for new technological advances such as the use of artificial intelligence (AI) to optimize clinical trial designs and predict patient responses to treatments, thereby improving efficiency in rare drug development.

While regulatory frameworks for rare diseases have in many ways pioneered the way patient input is used in medicines regulation, there is still more to be done. We need policies that are agile and adaptable, allowing us to integrate real-world evidence and new technologies that benefit patients. These frameworks should not only streamline drug development but also prioritize timely access to treatments for rare disease patients.

This experience reinforced my belief in the vital role of collaboration, patient engagement, and innovation in advancing rare disease research and development. At Ipsen, we are deeply committed to these principles, striving to improve the lives of those affected by rare diseases. A key opportunity lies in enhancing regulatory harmonization across agencies around the world, enabling closer collaboration with the broader stakeholder ecosystem in rare diseases. By aligning efforts across sectors, we can more effectively address the inherent uncertainties of rare disease research, drawing on shared insights to drive meaningful progress.

I look forward to continuing this essential dialogue with colleagues across industry, regulatory bodies, patient communities, and other key stakeholders. Together, we can ensure the patient voice not only influences but actively shapes the future of orphan drug development.

______________

1. Pignolo, R.J. et al. Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective. Orphanet J Rare Dis 17, 168 (2022). https://doi.org/10.1186/s13023-022-02224-w