Our Innovation

Rare Disease

Partnering to Impact Global Health

One area where Pfizer sees incredible scientific potential is in gene therapy. The technology behind certain gene therapies involves introducing genetic material into the body of a patient to deliver a correct copy of a gene to compensate for a defective or missing one. We are working to explore the promise of gene therapy by leveraging our growing expertise and by making strategic investments, including building dedicated manufacturing facilities, and forging new partnerships and collaborations.

The Potential of Gene Therapy

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Unlocking the Potential of Our Genes
Gene therapy has the potential to significantly change disease management and improve the lives of people with genetic disorders, particularly those genetic disorders that are caused by a single mutation. Gene Therapy:

  • Has the potential to treat many known rare genetic diseases
  • Offers potential for a one-time treatment

In August, Pfizer announced plans to invest $100 million to expand the company's Sanford, North Carolina, manufacturing facility to focus on gene therapy. This builds on the 2016 acquisition of Bamboo Therapeutics, Inc., a North Carolina-based biotechnology company developing investigational gene therapies. This investment will create up to 40 jobs and help to advance technology, first developed at the University of North Carolina at Chapel Hill, which is being used by Bamboo.

In May, we signed an exclusive, global collaboration and license agreement with Richmond, California-based Sangamo Therapeutics, Inc. for the development and commercialization of gene therapy treatments for hemophilia A, including SB-525, one of Sangamo’s four lead product candidates. SB-525 is now in a Phase 1/2 clinical trial for adults with severe hemophilia A, a rare blood disorder caused by a genetic mutation resulting in insufficient activity of factor VIII, a blood-clotting protein the body uses to stop bleeding. Under the collaboration terms, Sangamo received a $70 million upfront payment from Pfizer and Sangamo will be responsible for conducting the Phase 1/2 study and certain manufacturing activities, while we will be responsible for subsequent research, development, manufacturing and commercialization activities for SB-525 and any additional products.

In December, interim data from the ongoing Phase 1/2 clinical trial of SPK-9001, a potentially transformative investigational gene therapy treatment for hemophilia B being developed in partnership with Spark Therapeutics, was published in the New England Journal of Medicine.

Marrying Science and Technology to Help People with Hemophilia

In August, Pfizer launched Hemocraft™, a modification of the popular block-based, multi-player video game, to help children living with hemophilia better approach education and activity tracking in the U.S.

Created in partnership with the Entrepreneurial Game Studio at Drexel University and representatives from the hemophilia community, Hemocraft is designed to help children with hemophilia learn the importance of integrating treatment into their routine in an educational and fun gaming environment.

Pfizer also created the HemMobile® Striiv® Wearable, a custom wristband and the first wearable made for patients with hemophilia, to help patients track daily activity levels and monitor heart rate to measure intensity. The wristband integrates with our existing HemMobile app, which allows users to log bleeds and infusions, monitor their factor supply and set appointment reminders. The captured data generate personalized reports to provide a user’s health care team with insights that can help guide the discussion between a physician and patient.

Bringing a Scientific Approach to Sickle Cell Disease Patient Education

Given the need to deepen understanding and perceptions around sickle cell disease (SCD) among African Americans, Pfizer collaborated with the National Newspaper Publishers Association (NNPA) – a trade association of the more than 200 African American-owned community newspapers in the U.S. – and scholars from Howard University on a poll designed to dispel long-held views of the disease. SCD is a lifelong and debilitating disorder that affects red blood cells. It is the most common inherited blood disorder in the U.S., and most people living with sickle cell disease are of African descent. In fact, SCD occurs in one out of every 365 African American births.

Research like this – combining our laboratory-based science with real-world evidence – is important for us because, by gaining a better understanding of the perceptions of SCD among African Americans, we can further enhance our disease education and awareness efforts, while at the same time educating patients and their families about the importance of progressing the science and bringing novel treatments to those in need.

The poll is a key initiative under the Pfizer-NNPA collaboration, which also included a series of articles with information regarding SCD and its impact, as well as common disease myths, published in NNPA-affiliated newspapers.

Progressing the Science in Duchenne Muscular Dystrophy

In May, we completed enrollment of our Phase 2 clinical trial of domagrozumab (PF-06252616) for the treatment of boys with Duchenne muscular dystrophy (DMD), one of the various forms of muscular dystrophy, a rare genetic disease characterized by progressive muscle degeneration and weakness. The disease primarily affects boys, but in rare cases it can affect girls. Muscle weakness can begin as early as 3 years of age, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged. By the early teens, the heart and respiratory muscles are also affected. According to the U.S. Centers for Disease Control and Prevention, the estimated prevalence of DMD, or a less severe form known as Becker muscular dystrophy, is one in every 7,250 males in the U.S. between five and 24 years of age.1

Domagrozumab is an experimental, infused, anti-myostatin monoclonal antibody. Myostatin is a naturally occurring protein in muscles that helps control muscle growth; it is hypothesized that blocking the activity of myostatin may have potential therapeutic application in treating muscle degenerative diseases such as DMD. Domagrozumab was granted Orphan Drug and Fast Track designations by the U.S. Food and Drug Administration in 2012.

Building from the work started last year with the acquisition of Bamboo, we also continued our research in advanced recombinant adeno-associated virus-based gene therapies, working to bring our pre-clinical neuromuscular candidate for DMD into the clinical setting.


1. Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J; MD STARnet. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015 Mar;135(3):513-21