Of the more than 6,000 rare conditions classified as orphan diseases, fewer than 10 percent have therapies that directly address the underlying cause, which is often genetic. To help bridge this gap, Pfizer has launched an Orphan and Genetic Diseases Unit that has been charged with discovering novel, lifesaving medicines for diseases affecting fewer than 200,000 patients in the United States.
The unit will build on Pfizer’s internal expertise in orphan and genetic disease drug development and will coordinate current R&D efforts with a goal of creating commercial opportunities when orphan drug candidates advance to the proof-of-concept stage.
Based in Cambridge, Mass., the unit will pursue treatments across all therapeutic areas and modalities, and will serve as the focal point for Pfizer’s existing research on rare diseases.
The group will initially concentrate on three broad areas of research:
- Protein replacement therapies in monogenic diseases (including conditions such as sickle cell anemia, cystic fibrosis and Huntington’s disease);
- Hematologic orphan diseases (blood diseases such as hemophilia); and
- Muscular dystrophy.
“We’re very excited about our new Orphan and Genetic Diseases Unit,” said Jose Carlos Gutierrez-Ramos, Senior Vice President, BioTherapeutics Research and Development. “We are coupling Pfizer’s existing experience in orphan and genetic diseases, such as hemophilia, with our advanced protein technologies, resources and world-class scientific team to focus on becoming a driving force in orphan and genetic disease research.
“Pfizer has a long history in discovering, developing and commercializing medicines that treat rare diseases and we are hopeful that this research unit will lead to additional new medicines for patients suffering from devastating illnesses for which there is no cure.”
Several factors have driven the growing commitment to finding therapies for orphan or genetic diseases, including:
- Unmet and undisputed medical needs;
- A less onerous regulatory environment;
- Validated business models; and
- A more straightforward development path.
As a result, several large pharmaceutical companies recently announced plans to increase their investments in this area. Additionally, governments in Japan, Australia, Brazil, Korea, Taiwan, Russia and the European Union have adopted orphan drug policies that are continuing to shape the landscape of rare disease therapeutics.
Tackling Unmet Medical Needs
Pfizer’s Orphan and Genetic Diseases Unit, which is part of Worldwide Research and Development, is led by Ed Mascioli, Vice President, BioTherapeutics Research and Development. Mascioli was most recently the founder and CEO of Dapis Capital, a private equity firm focused on health care and life sciences.
“The Orphan and Genetic Diseases Unit will combine our exceptional internal expertise and capabilities with an external focus on both biopharmaceutical firms as well as academic laboratories in aggregating the portfolio of assets to develop,” said Mascioli, whose background encompasses health care venture capital, clinical development and academia.
“This complementary approach will ensure that optimal resources are brought to bear on the most difficult medical challenges of our day. Patients, physicians and researchers have been galvanized by the ongoing unmet needs in orphan and genetic diseases and Pfizer is well-positioned to take a leadership role in helping patients who have long been underserved.”
The company also intends to work closely with patient advocacy groups as it develops and advances the unit’s research strategy.