Rare Diseases: No Hope Without Research

Scientific advances are essential to improving the lives of patients with rare diseases.

On Feb. 28, 2014, millions of patients, families and caregivers around the world will recognize the seventh annual Rare Disease Day.

Organized by the European Organization for Rare Diseases (EURORDIS), the event raises awareness of rare diseases and of the impact that policy makers and the public can have on the lives of patients with these diseases. On this year’s Rare Disease Day, Celgene reaffirms its continued commitment to the development of new treatment options for rare diseases.

In Europe, 30 million people are estimated to have one of nearly 7,000 rare diseases. A disorder is defined as “rare” or an “orphan” in Europe when it affects fewer than one in 2,000 people.

Out of those 7,000 rare diseases, only about 300 conditions have treatments approved by the Food and Drug Administration (FDA), according to the National Organization of Rare Diseases (NORD), which partners with EURORDIS to support Rare Disease Day initiatives in the United States. This leaves many patients who have rare diseases without medicines to treat their condition effectively.

“It’s important because there are not many treatment options, and many rare diseases are serious,” Mary Dunkle, vice president of communications for NORD, said. She believes that scientific advances are essential to addressing this critical issue. “There’s no hope it will get better without research.”

In 2000, Europe addressed this need by introducing the European Union (EU) Regulation on orphan medicinal products, which created a centralized system for providing incentives to enable research and development (R&D) of medicines for orphan drugs. Since then, the EU’s annual R&D expenditure has more than tripled in eight years, from €158 million in 2000 to €490 million in 2008.

In addition to helping patients, this investment in rare disease research has contributed to Europe’s economy. In 2000, there were 2,000 employees at companies specializing in orphan drugs. By 2008, that number grew to more than 5,000. Expenditures for orphan drugs are estimated to account for less than 5 percent of European pharmaceutical expenditures by 2020, showing that investments in rare disease R&D can be affordable and sustainable.

At Celgene, developing therapies that treat rare diseases is at the heart of what the company does. Approximately 90 percent of Celgene’s portfolio consists of therapies that treat orphan diseases, illustrating the company’s commitment to patients with rare diseases.

On Rare Disease Day 2013, Celgene was presented with the EURORDIS Company Award for excellence in the field of rare diseases. The award recognized Celgene’s four orphan drugs approved by the European Medicines Agency and its development programs in more than 45 rare disease conditions.

Since then, Celgene has continued its efforts to bringing new treatments for rare diseases to the market. In the past year, Celgene has received approvals for new therapies to treat rare diseases in the United States, EU and Canada and also announced several positive study results. This research has focused on a number of rare diseases such as multiple myeloma, psoriatic arthritis, Behcet’s disease and mantle cell lymphoma.

These advancements in medical research are a key part in helping patients with rare diseases, and things seem to be moving in the right direction. “Incredible progress has been made on the scientific front,” said Dunkle. “It’s a very hopeful period.”