Our Commitment to the Rare Disease Community

In simple terms, health equity means that every person deserves a fair opportunity to live his or her healthiest life possible.

But people living with rare diseases often face significant health inequities and are among the most underserved patient populations globally. Due to the scarcity of their conditions, these individuals face challenges in getting diagnosed and receiving treatment and care.

It is my strong contention that addressing these challenges for patients with rare diseases is an equally urgent mission as finding solutions for more common disorders such as cancer, heart disease and diabetes. At Pfizer, we’ve been committed to the rare disease patient community for over 30 years. We have and continue to seek to combine the depth and breadth of our understanding of the science of these diseases to develop a focused and disciplined approach to developing potential medicines that may have a profound impact on patients’ lives.

More common than you think

A rare disease, by definition in the U.S., is any condition that affects fewer than 200,000 people. With more than 7,000 known rare diseases, they include a diverse mosaic of conditions — from the more common, such as hemophilia and Lou Gehrig disease to the lesser-known, such as Wilson disease, a disorder of copper metabolism, and chronic inflammatory demyelinating polyneuropathy (CIPD), an autoimmune condition that attacks the nerve’s myelin sheaths. More than 80% of these conditions are genetic and about half of them afflict children.

Individually, these conditions may impact relatively few people. But collectively, they’re not so rare. Some 400 million people worldwide are living with a rare disease— which is more than the U.S. population.

While each rare disease is different, this community shares common challenges. Their conditions are often debilitating, progressive, and life-threatening. Some 30% of children with a rare disease will not live to their 5th birthday. For many patients, their diagnostic odyssey can average six to eight years before they receive a definitive diagnosis. And frequently, after they are diagnosed, their treatment options remain limited, relying primarily on palliative care. Presently, only 5% of known rare diseases have an FDA-approved therapy. With a lack of resources and support, people living with these conditions, as well as their families and caregivers, may experience isolation, which can significantly impact their overall health.

Follow the science

Despite these challenges, I have hope that both internal and collaborative scientific innovation can usher in much-needed treatments for the rare disease community. At Pfizer, we’re focused on four therapeutic areas where we have scientific and clinical experience — rare hematology, endocrine/metabolic, cardiology, and neurology. We continue to make strides in these areas, as illustrated by the 10 investigational therapies currently in clinical studies, including three gene therapy programs in Phase 3 testing. Our pipeline covers a number of different diseases in each therapeutic area and uses a diverse range of therapeutic modalities— small molecule-based medicines, monoclonal antibodies, gene therapies and devices to help improve treatment options.

At Pfizer, we’re also well positioned to leverage our end-to-end capabilities, which simply means we have the talent, expertise and infrastructure to advance a potential medicine from early concept to drug registration. This is possible because all teams — early research, clinical development, commercial and more, are working together to advance our potential medicines as quickly as possible.

As a part of our therapeutic strategy, we follow the science and often collaborate with leading academic institutions and biotech companies. These collaborative efforts are focused on deconvoluting the underlying biology of rare diseases and harnessing innovative technologies with the potential to help treat patients. Leveraging the strengths our of respective organizations allows us to accelerate the development of emerging therapeutic concepts. Indeed, a stated goal is for us to be a partner of choice across the rare disease ecosystem.

Importantly, from the earliest stages of research, patients have been and will continue to be key partners. We’re committed to gaining better insights into their conditions and learning what impactful therapies mean to them. To better serve the underserved, rare disease patient population, we believe listening and learning from them is critical.