New Pfizer research unit to focus on rare diseases

Research on rare diseases used to be the province of start-up biotech firms, but with blockbuster drugs harder and harder to find, even the world's largest pharmaceutical firm can't pass up small opportunities.

That's why Pfizer Inc. has announced the formation of a new research unit, based in Cambridge, Mass., which will focus exclusively on diseases affecting fewer than 200,000 people.

"With patents expiring (on older drugs such as Viagra and Lipitor) and long-term revenue in doubt, programs like these offer an opportunity companies like Pfizer can no longer afford to overlook," according to a commentary in the pharmaceutical blog FierceBiotech.

The National Organization for Rare Disorders, known as NORD, lists more than 1,000 rare diseases, ranging from bubonic plague to sudden infant death syndrome to West Nile encephalitis, otherwise known as eastern equine encephalitis. But Pfizer said more than 6,000 diseases have been classified as "orphan diseases," and less than 10 percent of these have available therapies targeting underlying causes.

"NORD is very happy that Pfizer is establishing a Rare Diseases Research Unit," Peter L. Saltonstall, president and chief executive of the organization, said in a statement. "Approximately 30 million Americans ... have rare diseases and, for most of those people, there is no specific treatment."

Edward Mascioli, formerly vice president of clinical affairs at Peptimmune Inc. and senior medical director at Paraxel, will run the new research unit. Mascioli, most recently head of a private equity firm focusing on health care and the life sciences, will report to Jose Carlos Gutierrez-Ramos, senior vice president of BioTherapeutics Research and Development.

"We are coupling Pfizer's existing experience in rare diseases, such as hemophilia, with our advanced protein technologies, resources and world-class scientific team to focus on becoming a driving force in rare disease research," Gutierrez-Ramos said in a statement.

New York-based Pfizer said its new unit "will pursue treatments across all therapeutic areas and modalities" and called the move "a further step in Pfizer's strategy to apply our strong science and technology base to find innovative new treatments for patients." Pfizer told The Boston Globe that hemophilia, muscular dystrophy and serious diseases spurred by mutating genes will be initial areas of concentration.

Pfizer would not specify how many people would be involved in the rare-disease unit nor how it would interact with the scientists at Pfizer's campuses in Groton and New London who study a wide range of diseases. But the company did say there would be opportunities for shared research.

"The unit will partner closely with research units at all of our major R&D sites, and so there will be opportunities for Groton scientists to work with the unit on that basis," said Pfizer spokeswoman Anne Wilson.

Pfizer told The Globe that the rare-disease unit would be looking to partner with universities and biotech firms in the Boston area to advance new research.

Though rare diseases don't offer the potential large markets that drugs targeting major disorders can tap into, the barriers for getting therapies approved are lower, which reduces the costs associated with developing medicines. So-called orphan drugs - therapies that treat diseases in which no remedy is currently available - receive favorable treatment from the FDA, accelerating the speed at which companies can bring products to market.

Pfizer signaled its interest in rare diseases late last year, when it bought the rights to an experimental drug to fight Gaucher's disease, an enzyme deficiency that can damage the liver and bone marrow, occasionally leading to death. The deal that calls for Pfizer and Israel's Protalix BioTherapeutics Inc. to develop and commercialize a plant cell called taliglucerase alfa will cost the company up to $115 million.

At the time of the Protalix agreement, Kindler said focusing on rare diseases fit in with Pfizer's strategy of looking for new therapies to treat unmet medical needs.

"This is an example," he said after a speech in Boston. "I hope it will be one of many."

Pfizer's move into rare diseases coincides with a similar strategy from British drugmaker GlaxoSmithKline, announced in February.

GSK estimates that 6 to 8 percent of the population worldwide may be affected by a rare disease.

"Many are genetic in origin, start in childhood and cause lifelong debility and premature death," the company said in a press release.