Uncommon but Not Incurable: The Power of the Patient in Fighting Rare Disease

The science of rare disease has made tremendous strides over the past several decades.

Between the early 1970s and 1980s, fewer than 10 medicines for rare diseases came to market. But since the passage of the Orphan Drug Act in 1983, the U.S. Food and Drug Administration has approved nearly 500 therapies[1] for people with rare diseases. In the last five years, one third of all new drug approvals were for rare diseases.

What’s more, new approaches aren’t just treating symptoms; they’re beginning to take aim at the underlying causes of disease, enabling patients to live longer, healthier lives.

This progress would not have been possible without the tireless advocacy and relentless commitment from patients. As we celebrate Rare Disease Day, today, February 29, it’s only fitting that we recognize how crucial the patient voice has been in getting us to today – and how much more powerful it will become as we pioneer new therapies for the future.

Despite our advances in biomedicine, there is a great deal more we must do. Globally, more than 350 million people – about half of which are children – suffer from a rare disease. In the United States, 10 percent of the population lives with one of 7,000 known rare diseases. But only 5 percent of those conditions have an approved therapy.[2]

At Pfizer, we’re proud of our strong heritage in this field. As one of the top five companies serving the rare disease community, we provide more than 20 approved medicines for rare disease indications in 81 countries worldwide.

The critical keystone of our model? Partnerships with patient groups, the advocacy community and academia.

Since first establishing our commitment to advancing the science of rare disease more than 20 years ago, we’ve prioritized collaborations that elevate the patient’s voice and experience. For example, in 2012, we established a six-year research, development and commercialization agreement with the Cystic Fibrosis Foundation’s medicine development arm, Cystic Fibrosis Foundation Therapeutics, Inc., and in 2014, sought input from DMD patient groups in our planning of our current trial in Duchenne Muscular Dystrophy. Also in 2014, we launched the Rare Disease Consortium with the Global Medical Excellence Cluster in the UK to provide opportunities to work closely with researchers and clinicians that see rare disease patients.

Relationships like these and others have enabled us to gain insights into the disease, access critical natural history data, understand the patient journey and improve clinical trial recruitment, all with the goal of accelerating the development and accessibility of new medicines. 

For example, we’ve been able to break new ground in therapies for hemophilia. But our ability to pioneer new treatments emerged from working with patients and advocates, like the World Federation of Hemophilia and others. Over time, we’ve learned that the biggest advancements come from understanding the range of difficulties hemophilia patients face and working with their support networks to discover new medicines and breakdown barriers to treatment.

Going forward, as we increasingly look to the possibility of gene therapy to uncover solutions to rare diseases, we know that patient partnerships will continue to be a differentiating factor between success and failure. And we’ll continue to make sure more medicines and patient support are accessible through programs like Pfizer’s RxPathways and other community efforts.

Science and technology have brought us to the cusp of unprecedented breakthrough in rare disease treatment. I have no doubt we’ll be able to unlock the full potential of new innovation by continuing to follow the voice of the patient.

If you want to learn more about how you can raise your voice to support rare disease patients around the world, please visit the Rare Disease Day website and the National Organization for Rare Disorders.

[1] National Organization for Rare Diseases. Maintaining Incentives for Drug Development: A Snapshot of Patient Experiences. June 2015.

[2] https://globalgenes.org/rare-diseases-facts-statistics/