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In the United States, a rare disease is defined as a disease that affects fewer than 200,000 people. Many rare diseases affect only a few thousand, a few hundred, or even just a handful of individuals. While each individual rare disease impacts a small number of people, collectively there are more than 7,000 rare diseases affecting 400 million people worldwide today.

However, because the number of people impacted by each individual rare disease is low, many rare conditions are poorly understood and thus frequently misdiagnosed. Despite numerous therapeutic advances, there are still few diagnostic tools and limited research and development as compared to more common conditions. Today, only 5% of rare diseases have an approved treatment option.

Rare Disease Day, held annually on the last day of February, is an important moment to reflect on both the progress made in developing rare disease medicines and galvanize the collective strength of the community toward a more equitable future.

Alexion, AstraZeneca’s Rare Disease group, has pioneered meaningful change in rare disease for many years. This began with a quest three decades ago to decipher targets within the complement system, an essential part of the immune system. Alexion charted new territory and unlocked a new science to deliver transformative medicines, changing the way we approach treatment of some of the rarest conditions.

“As Alexion celebrates its 30th anniversary, we are proud of the hope our medicines bring to so many patients, but we know there is so much more work to do to expand the reach of our innovative medicines to more people with rare diseases,” said Marc Dunoyer, Chief Executive Officer, Alexion. “We are committed to continuing to accelerate innovative science to address the many unmet needs and equity challenges facing the rare disease community.”

Patients are the guiding star on the road less traveled

The path to bringing hope to patients with some of the rarest diseases has been as innovative as the medicines themselves. To deliver groundbreaking therapies, Alexion has had to step outside the box of traditional research and development (R&D). Rethinking foundational elements, such as patient recruitment, clinical trial design and meaningful endpoints, has required creativity and lockstep collaboration with the community. Through direct insights and conversations with patients, caregivers, and advocates, Alexion has tailored its protocols to ensure that trial design and execution reflect both patients’ experiences and unique disease burdens while addressing quality of life considerations that truly matter.

“At Alexion, patient-centricity is a core value demonstrated by our patient-centric actions and behaviors that inform how we make decisions,” said Wendy Erler, VP, Head Patient Experience & Insights, Alexion. “The learnings our organization gathers from the rare disease community are infused into every stage of the R&D process to help ensure that our clinical trials are both scientifically rigorous and positioned to deliver transformational medicines that meet the unique needs of patients.”

Alexion’s commitment to deeply understanding the conditions it sets out to treat and the experiences of those living with them has translated into richer, more meaningful discussions with decision makers. In close collaboration with regulatory agencies, the company has worked to define meaningful endpoints and bespoke pathways to approval for certain rare indications. This often took the form of employing novel techniques. For example, Alexion was one of the first developers to use video evidence in regulatory submissions to demonstrate the value of an endpoint for a metabolic rare disease, an approach that is now considered standard practice.

“We’ve learned that unique approaches to R&D are imperative to advancing science and research in rare disease,” said Gianluca Pirozzi, SVP, Head of Development and Safety, Alexion. “Capturing meaningful data enables researchers and regulators worldwide to better understand the impact of our science so that we can deliver medicines for these communities more quickly.”

Paving a path to continued change

Alexion’s frameworks have helped shape the development and regulatory processes for evaluating rare disease medicines. They offer a guide to learn from and build upon with the hope of inspiring other organizations to invest in R&D for much needed options for patients. Alexion is also collaborating with several global rare disease advocacy organizations, industry partners and policy leaders this Rare Disease Day and throughout the year to engage in meaningful conversations on the topic of health equity.

“There is power in the open exchange of information among experts in the field — whether they be patients, caregivers, policy makers, healthcare providers or scientists — as we strive for better diagnostics, faster development timelines for new medicines, and improved access for people with rare diseases,” said Dunoyer.

To learn more about Alexion’s commitment to rare disease innovation, visit and visit to join the conversation on creating more equitable health systems for patients and their families.