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Applying Rare Disease Research to Uncover New Therapies

Pfizer is uniquely positioned to lead advances in rare disease treatment.

More than 30 million people in the U.S. and 350 million globally are impacted by one of 7,000 distinct rare diseases, and the National Institutes of Health estimates that half of all people affected by rare diseases are children.1

Investigating the Next Wave of Innovation to Help People with Hemophilia

Over the past 25 years, genes responsible for approximately 50% of the monogenic diseases2, diseases where a single gene is mutated, have been identified and it is estimated that the remaining disease-causing genes will be known by the year 2020.3

Scientific advances over the past decade have increased understanding of rare diseases and their underlying causes, even enabling the development of critical treatment options for some. But today, just 5% of rare diseases have an available therapeutic, and a significant unmet medical need remains.4

At Pfizer, we are making important strides in our,
understanding of rare diseases.

At Pfizer, we are making important strides in our understanding of rare diseases and there is tremendous opportunity for patients driven by recent scientific breakthroughs to enable the discovery and development of new medicines.

A majority of rare diseases are caused by a single gene mutation, and thanks to genome sequencing, we now have clues that lead us in the best direction for potential therapies. This is key for Pfizer as we focus on monogenetic diseases, partly through our gene therapy efforts.

With more than 20 years of experience in rare disease research, treatments approved in 81 countries, and multiple drugs in clinical trials, Pfizer is uniquely positioned to lead advances in rare disease treatment. We are focused on two main areas of research in rare disease:

Hematologic DiseasesAn area where Pfizer has a long heritage in Hemophilia and where we’re excited about our collaboration with Spark Therapeutics, Inc. The next frontier for us is in Sickle Cell Disease, a devastating condition with a high unmet need for new treatments. We have assets in our pipeline that have that may manage the disease, and others that may actually modify the course of the disease.
Neuromuscular Diseases These often inherited diseases can be debilitating and cause muscle weakness, and in some cases, can even impact heart function and one’s ability to breathe. We are focusing our efforts in Duchenne Muscular Dystrophy, and other neuromuscular diseases. Through our acquisition of Bamboo Therapeutics Inc., we have preclinical programs in Friedreich’s Ataxia and Canavan disease, and a Phase I asset for Giant Axonal Neuropathy.
Gene therapy is a promising investigational technology, especially for patients with rare diseases.

Gene therapy is an emerging area of medical research focused on developing highly specialized, one-time, transformative treatments aimed at addressing the root cause of diseases caused by genetic mutation. Gene therapy is a promising investigational technology, especially for patients with rare diseases, many of which are caused by a single genetic mutation.

The technology involves introducing genetic material into the body to deliver a corrected copy of a gene to a patient’s cells to compensate for a defective one. The genetic material can be delivered to the cells by a variety of means, one of which is uses a viral vector such as recombinant Adeno-Associated Virus (rAAV).

The technology involves introducing genetic material into the body to deliver a corrected copy of a gene to a patient's cells…

To bolster our capabilities in gene therapy, Pfizer acquired Bamboo Therapeutics, Inc., a privately held biotechnology company based in Chapel Hill, N.C., focused on developing gene therapies for the potential treatment of patients with certain rare diseases related to neuromuscular conditions and those affecting the central nervous system. This acquisition significantly expands Pfizer’s expertise in gene therapy by providing Pfizer with clinical and several preclinical assets that complement the company’s rare disease portfolio, an advanced rAAV vector design and production technology, and a fully functional Phase 1/2 gene therapy GMP manufacturing facility that Bamboo acquired from the University of North Carolina.

Our strategy is focused on accessing the most effective vector design and manufacturing scalability to ensure we are phase 1/2 ready. We are building capabilities in gene therapy while also collaborating with some of the leading experts in this field:

Our collaboration with Spark Therapeutics, Inc. where we are jointly investigating SPK-9001 and its potential in hemophilia B. SPK-9001 received breakthrough therapy designation from the U.S. Food and Drug Administration to help expedite the development and FDA review of the investigational candidate.
Collaboration is key to success in rare diseases. At Pfizer, we pride ourselves in stretching the limits of traditional models of collaboration, working with innovators in government, academia, patient advocacy organizations and across the industry in new and important ways. The power of a networked R&D model that leverages the strengths of all sectors will drive the next generation of breakthrough therapies.
Pfizer is in constant engagement with patients to fully understand their needs…

From the earliest discovery phase, Pfizer is engaging to fully understand the needs of patients and to gain insights to help both patients and caregivers. In our engagement with advocacy and patient communities we hope to advance science together with ideas that could ultimately result in better therapies. Patient foundations play a pivotal role in rare disease R&D, helping amplify and accelerate efforts to bring potential therapies to areas where there are very limited, if any, treatment options. At Pfizer, our patient foundation partners work with our R&D teams to help de-risk early stages of research, prioritize endpoints, support clinical trial recruitment, and provide insight into disease.


Work with Us

If you’re interested in collaborating with our Rare Disease research team and want to learn more about work, visit our Rare Diseases Partnering page. We welcome the opportunity to discuss how we can work together.

Meet Some of Pfizer’s Rare Disease Researchers

Selected Publications from the Rare Disease Research Unit

1-(2-Hydroxy-2-methyl-3-phenoxypropanoyl)indoline-4-carbonitrile derivatives as potent and tissue selective androgen receptor modulators Journal of Medicinal Chemistry Piatnitski Chekler EL, Unwalla R, Khan TA, Tangirala RS, Johnson M, St Andre MS, Anderson JT, Kenney T, Chiparri S, McNally C, Kilbourne E, Thompson C, Nagpal S, Weber G, Schelling S, Owens J, Morris CA, Powell D, Verhoest PR, Gilbert AM. March 27 2014
A myostatin and activin decoy receptor enhances bone formation in mice Bone Bialek P, Parkington J, Li X, Gavin D, Wallace C, Zhang J, Root A, Yan G, Warner L, Seeherman HJ, Yaworsky PJ. March 2014
Discovery of novel 2-((pyridin-3-yloxy)methyl)piperazines as alpha7 nicotinic acetylcholine receptor modulators for the treatment of inflammatory disorders Journal of Medicinal Chemistry Clark RB, Lamppu D, Libertine L, McDonough A, Kumar A, LaRosa G, Rush R, Elbaum D. May 22 2014
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling Human Molecular Genetics Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. April 1 2014
Emerging and future therapies for hemophilia Journal of Blood Medicine Carr ME, Tortella BJ. September 3 2015
Inter-domain communication of human cystathionine β-synthase: structural basis of S-adenosyl-L-methionine activation The Journal of Biological Chemistry McCorvie TJ, Kopec J, Hyung SJ, Fitzpatrick F, Feng X, Termine D, Strain-Damerell C, Vollmar M, Fleming J, Janz JM, Bulawa C, Yue WW. December 26 2014
Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia Scientific Reports Nabhan JF, Wood KM, Rao VP, Morin J, Bhamidipaty S, LaBranche TP, Gooch RL, Bozal F, Bulawa CE, Guild BC. February 17 2016
Orphan Drugs and Rare Diseases Royal Society of Chemistry Pregel MJ. 2014
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin Scientific Reports Nabhan JF, Gooch RL, Chekler ELP, Pierce B, Bulawa CE. December 16 2015
Strategies for skeletal muscle targeting in drug discovery Current Pharmaceutical Design Ebner DC, Bialek P, El-Kattan AF, Ambler CM, Tu M. 2015
Two Novel α7 Nicotinic Acetylcholine Receptor Ligands: In Vitro Properties and Their Efficacy in Collagen-Induced Arthritis in Mice PLoS One van Maanen MA, Papke RL, Koopman FA, Koepke J, Bevaart L, Clark R, Lamppu D, Elbaum D, LaRosa GJ, Tak PP, Vervoordeldonk MJ. January 24 2015
2PhRMA. "Rare Diseases – A Report on Orphan Drugs in the Pipeline." 2013. Accessed August 14, 2014. Available at
3Boycott KM1, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet. 2013 Oct; 14(10):681-91. Available at
4PhRMA. “A Decade of Innovation in Rare Diseases: 2005 – 2015.” 2016. Accessed July 29, 2016. Available at