Partnering for Progress: How Astellas and the Pompe Disease Community Are Shaping the Future Together
Pompe disease is a rare, inherited, and progressively debilitating disorder that profoundly affects the lives of those diagnosed with it, as well as their families and caregivers. Caused by a deficiency or absence of the enzyme acid alpha-glucosidase (GAA), Pompe disease leads to an abnormal buildup of glycogen in cells, especially within muscles, which gradually weakens skeletal and respiratory muscles and can significantly impair mobility, breathing, and quality of life. For patients and their loved ones, navigating life with Pompe disease involves adapting to daily challenges, planning for long-term care, and managing uncertainty about disease progression and treatment options.
At Astellas, a global pharmaceutical company with a strong commitment to innovation in rare diseases, building trust and genuine partnerships with the patient community has become a central pillar of their approach to drug development. Rather than designing treatments in isolation, Astellas is engaging directly with patients, families, and advocacy groups to better understand what it means to live with Pompe disease and how new therapies can best support the diverse needs of those affected. This collaborative model is shaping the company’s strategy and bringing patients’ voices to the forefront of research and clinical development.
Understanding Pompe Disease: A Call for Patient-Centered Innovation
Pompe disease presents in two primary forms: infantile-onset Pompe disease (IOPD), which typically manifests within the first few months of life and is associated with severe muscle weakness and heart involvement; and late-onset Pompe disease (LOPD), which can develop at any age and is marked by progressive muscle weakness and respiratory complications. Both forms require lifelong care and monitoring, and while enzyme replacement therapy (ERT) has brought improvements to disease management, unmet needs persist—especially in terms of efficacy, accessibility, and long-term quality of life.
Addressing these challenges requires more than scientific rigor—it demands a human-centered approach that integrates the real-world experiences of people living with the condition. Astellas recognizes that the success of any potential treatment is not measured solely by clinical endpoints but also by how well it responds to the realities of patients’ lives.
Elevating the Patient Voice: The Role of the Patient Insight Panel
In pursuit of more inclusive and effective innovation, Astellas has made patient engagement a cornerstone of its work in Pompe disease. Central to this effort is the establishment of the Patient Insight Panel, a structured initiative designed to connect patients, caregivers, and families directly with the company’s global research and development teams. This panel functions as a feedback loop, providing vital input across the medicine development lifecycle—from early-stage clinical design to post-marketing assessments.
Christine Brown, Patient Partnerships Lead for Rare Diseases at Astellas, emphasizes the importance of this work:
“It’s essential to understand the burden of the disease from the patient’s perspective, including how they view the potential benefits and risks of any new therapy,” she says. “That is why Astellas has set up a Patient Insight Panel, an approach that enables patients, their families, and caregivers to provide feedback directly to the company’s global, cross-functional development teams.”
Over the past year, the Patient Insight Panel has been engaged through various formats—including virtual meetings, email consultations, and targeted surveys. These interactions have allowed patients to share their lived experiences, identify treatment priorities, and inform aspects of trial design that might otherwise be overlooked. Importantly, their feedback has led to practical changes, such as the addition of fatigue assessment metrics to better track disease progression—an outcome identified by patients as a meaningful aspect of daily living with Pompe.
Beyond trial design, insights from the panel have informed Astellas’ medical affairs and health economics teams. For instance, patients have contributed to shaping a genetic testing program and refining frameworks that evaluate both the personal and societal impact of the disease. This type of collaboration is helping Astellas identify and overcome potential barriers to clinical trial participation and, ultimately, aims to accelerate the path toward meaningful treatment options.
“Feedback from our Patient Insight Panel has been essential to shaping our approach for clinical trials,” says Brown. “Collecting insights from patients helps us prevent changes to study protocols later on, facilitates participant recruitment, increases the likelihood of retention in the study, and ultimately leads to potentially faster availability of new treatments in the market.”
Building Relationships: A Longstanding Commitment
Astellas’ commitment to Pompe disease patients goes beyond a single initiative. Since 2015, the company has maintained ongoing dialogues with the community, launching multiple engagement programs and educational events. These have included co-hosted meetings with patient organizations, webinars on care strategies, and community outreach activities designed to raise awareness and empower patients.
This culture of partnership is rooted in trust, transparency, and respect—values that Astellas brings to all its interactions with the rare disease community. As the company continues to develop a potential treatment for Pompe disease, it remains focused on listening to the individuals who are most directly impacted.
Patient Stories: Living with Pompe Disease
The following patient narratives offer a glimpse into the lived reality of those affected by Pompe disease and underscore why patient engagement is essential to driving progress.
Maddie’s Journey with Late-Onset Pompe Disease
Maddie was diagnosed with late-onset Pompe disease at just 11 years old—a time when most children are busy exploring their identities and dreaming about the future. For Maddie, the diagnosis was both a turning point and the beginning of a lifelong journey of self-discovery. Attending her first Muscular Dystrophy Association (MDA) camp provided a transformative experience, introducing her to a supportive community and helping her develop a strong sense of identity within the rare disease world.
Managing Pompe disease involves coping with chronic fatigue, limited mobility, and a rigorous schedule of doctor appointments and enzyme replacement therapy. Long walks and prolonged periods on her feet are physically taxing. Despite these obstacles, Maddie’s college years became a period of empowerment. She immersed herself in disability justice organizations and discovered a deep passion for advocacy.
Today, Maddie is a Disability Media and Content Specialist. She runs a podcast, maintains a vibrant social media presence, and uses her platform to amplify voices in the rare disease and disability communities. Her story exemplifies resilience, purpose, and the power of self-advocacy—values that Astellas seeks to honor in its work.
Harmony’s Story: Early Diagnosis and Ongoing Hope
Harmony’s diagnosis with infantile-onset Pompe disease came when she was just six weeks old. Early identification and immediate initiation of enzyme replacement therapy have allowed her to maintain a relatively stable condition. Every two weeks, a visiting nurse administers her infusion through a port in her chest, a process that takes around four hours. With the help of a backpack pump, Harmony is able to play and move around during treatment—a small but significant adaptation that supports her childhood experience.
Now a toddler, Harmony has some minor speech delays and remains physically small, but she is full of life and energy. She attends daycare, plays with her siblings, and engages with the world around her. Her story is a powerful reminder that timely access to care can profoundly impact long-term outcomes.
A Vision for the Future
As Astellas continues its research and development efforts in Pompe disease, it is clear that the insights and lived experiences of patients like Maddie and Harmony—and the dedication of their families and caregivers—are not just appreciated but foundational. These voices are shaping the future of rare disease treatment and redefining what meaningful innovation looks like.
By fostering open communication, prioritizing community involvement, and embracing patient feedback at every stage of development, Astellas is demonstrating what it means to be a trusted partner in rare disease care. Through this collaborative spirit, the company is advancing therapies that aim not only to treat symptoms but also to uplift the lives and futures of the people at the heart of the journey.
