In this BioPharma Boardroom discussion, we speak with Christophe Hotermans, Head of Global Medical Affairs at Alexion, AstraZeneca Rare Disease. From the emotionally resonant Rare Connections film series to reimagining clinical trial design through patient feedback, Alexion is championing a deeper, more human approach to rare disease care. Christophe shares how the company is translating empathy into action, ensuring that patient voices not only inform but inspire lasting change across the healthcare ecosystem.

What inspired Alexion to create the Rare Connections short-film series, and how has it evolved from the first installment to this latest focus on gMG?

Alexion launched the Rare Connections short-film series to bring to the forefront the lived experiences of people living with a rare disease and to continue our commitment to listening to patients and creating space for their experiences to be seen, heard, and understood.

The first award-winning installment explored the experiences of three people living with neuromyelitis optica spectrum disorder (NMOSD), highlighting the severity of relapses and impact of connection when living with a rare disease. The three individuals shared letters about their experiences and challenges, and when read aloud to one another, these letters built a powerful sense of solidarity that culminated in an emotional in-person meeting. 

Building on the success in NMOSD, the latest film in the series explores the fluctuations of generalized myasthenia gravis (gMG), a disease that can often feel invisible to others, and the power of feeling seen. Maintaining the same authentic storytelling approach, Rare Connections in gMG highlights the resilience and strength within this patient community. 

As the series evolves, its mission remains consistent: to honor the experiences of the patients we serve, foster genuine connections, and raise public understanding of these debilitating rare diseases. 

How do you ensure that patient voices and experiences meaningfully inform your education and awareness initiatives?

Learning directly from patient communities is essential to our work. To us, ‘patient centricity’ is more than a catchphrase. It’s a mindset that is deeply embedded in the Alexion culture and guides our decision making. Many rare diseases are not well understood, and those who are directly impacted by them are the best source of knowledge. We listen to, learn from and partner with the rare disease community to understand their lived experience, so we can address their unique burdens. Together we co-create solutions and amplify awareness, including initiatives such as Rare Connections, to ensure the rare disease experience is authentically captured and reflected.

Beyond awareness, what are some specific ways Alexion is advancing patient centricity in rare disease care?

Alexion applied its three decades of rare disease expertise to be the first to design a bespoke rare disease Patient Friction Coefficient (PFC), a measure developed by Tufts Center for the Study of Drug Development in partnership with IQVIA. The PFC is a framework to inform and design patient-centric clinical trials by systematically gathering and applying patient insights. Alexion took the PFC and designed it to evaluate a trial’s burden to rare disease patients, and their caregivers, in a way that can be measured and reproduced for every rare disease trial.

In Alexion’s PREVAIL Phase III trial in gefurulimab, an investigational complement inhibitor designed for subcutaneous self-administration in adults with gMG, the PFC was utilized to guide protocol development. Alexion established a Patient Insight Group composed of 6 U.S.-based patients. The group convened for two 60-minute discussions focused on how patients learn about trials, decide to enter, weigh the decision to continue or stop participation and prefer to manage continued treatment. These discussions gleaned important insights, including: 

• Patient Advocacy Groups (PAGs) and healthcare providers are key resources for trial information
• Transportation and childcare were main concerns as well as needing clear instructions on how to navigate trial sites 
• Interest in a one-stop-shop for trial-related information 
• A preference for completing questionnaires at home/prior to study visit 
• Reservations about properly self-administering treatment

Based on this feedback, Alexion incorporated critical changes to the study protocol, including the addition of rest breaks for visits over four hours as well as travel and childcare reimbursement. Alexion also initiated the development of several tools to help educate patients, including resources to help navigate trial sites and understand study expectations, as well as functionalities for appointment reminders through a one-stop-shop digital portal.  To address self-administration hesitations, the company developed an instructional video and enabled video conference visits with site investigators to ensure treatment is properly administered. Finally, Alexion applied its learnings to a robust patient recruitment effort, with a focus on patients’ most trusted sources of information: PAGs and healthcare providers.

What do you see as the biggest remaining barriers to timely diagnosis and effective treatment for gMG patients worldwide?

One of the biggest barriers to timely diagnosis and effective treatment in gMG remains limited disease understanding, both among the general public and healthcare providers. Because gMG is rare and can present with fluctuating, nonspecific symptoms, it is often misdiagnosed or overlooked entirely. Patients often endure years of uncertainty, seeing multiple specialists before receiving an accurate diagnosis. And the fluctuating symptoms make disease monitoring and treatment optimization complex, highlighting the need for more personalized, targeted approaches. These challenges can take a significant toll on mental health, relationships, employment and other aspects of a patient’s life, so we remain committed to raising awareness, accelerating time to diagnosis, expanding access to innovative therapies, and helping to ensure patients are supported throughout their journey; not just clinically, but holistically.

How do you measure the impact of projects like Rare Connections in terms of both patient empowerment and broader public understanding?

The true impact of Rare Connections is felt when we hear directly from the rare disease community. Since launching Rare Connections in NMOSD, we’ve heard from the NMOSD community, including that a patient “saw [her]self in their stories,” and that the film “shows you thrive, versus survive, with support in this disease.” Healthcare providers have even openly shared that they learned more about the patient experience with this disease watching Rare Connections than they did in medical school. We are pleased with initial feedback to Rare Connections in gMG and look forward to continuing to educate and raise visibility by amplifying the inspiring stories of the patients it features. Ultimately, success is reflected in increased understanding and the meaningful dialogue we spark.

As you look to the future, what further commitments is Alexion making to support people living with generalized myasthenia gravis and other rare diseases?

We know there is no one-size-fits-all approach to addressing the needs of the rare disease community. Alexion continues to innovate to bring new medicines forward that address the needs of patients and to increase access to effective medicines and diagnostics worldwide. We are also working with a partner to develop an app-based tool to help enable patients to track their gMG symptoms, as well as continuing to foster education to help improve outcomes for more people with gMG and other rare diseases. With more than 30 years of rare disease leadership and 20-plus years of real-world evidence, our work is constantly evolving and is never complete.