No Patient Population Too Small

Patients with rare diseases often have few treatment options, but the outlook is improving thanks to evolving priorities.

Patients with rare diseases can often feel isolated, misunderstood and totally alone. But rare diseases actually affect a significant number of people around the world. It’s estimated that 350 million people suffer from rare diseases, according to the Global Genes Project. If all these people lived in one nation, it would be the third most populated country in the world.

The definition of a rare disease varies by country. In the United States, rare diseases are defined as those that affect less than 200,000 Americans per year, while in the United Kingdom a disease affecting fewer than 50,000 people is considered rare. The National Institutes of Health estimates that a total of 6,800 rare diseases impacts more than 25 million Americans. The Global Genes Project approximates that Europe has another 30 million people with rare diseases.

From less common cancers such as multiple myeloma and myelodysplastic syndromes to Behcet’s disease, an illness that involves inflammation of blood vessels, rare diseases are finally starting to get some much-needed attention. Around the world, governments have taken notice and are taking measures to try to address the unmet needs of people suffering from rare diseases. The United Kingdom unveiled its U.K. Rare Diseases Strategy in November 2013, to support research and build the country’s reputation as a global leader in the diagnosis and treatment of rare diseases. The country’s National Institute for Health Research is investing £20 million to create a Rare Diseases Translational Research Collaboration.

In the United States, where these diseases have received growing attention over the past three decades, the Food and Drug Administration (FDA) began motivating the development of treatments for rare diseases with the Orphan Drug Act in 1983. The FDA’s Office of Orphan Products Development has since supported the development and marketing of more than 400 therapies. This advancement is bringing attention to illnesses that may have been out of the limelight in the past. “Just because a disease is rare doesn’t mean it isn’t important,” John Huber of the Aplastic Anemia & MDS International Foundation (AA&MDSIF), said. “For those families and individuals impacted, it’s a life-or-death situation. You don’t just throw in the towel.”

The good news is more and more therapies are receiving the FDA’s “orphan drug designation.” Unfortunately, approvals are not keeping pace. In 1985, 50 therapies received orphan drug designations, and seven such drugs were approved. In 2010, the number of designations jumped to 194 therapies, yet still only 14 were approved.

In October 2013, the FDA took steps to further encourage the development of treatment options for rare diseases, awarding 15 grants totaling more than $14 million to researchers studying difficult-to-treat conditions that currently have no available treatment options. The funded studies included clinical trials of novel treatments for conditions such as amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease), Wiskott-Aldrich syndrome (an inherited disorder that affects mostly men and is characterized by defects in the immune system and trouble with blood clotting) and several rare forms of anemia.

In addition to government-supported funding of clinical trials for rare diseases at research institutions, pharmaceutical companies are heavily involved in the development of therapies for rare diseases. The Pharmaceutical Research and Manufacturers of America (PhRMA) reported 452 medicines in various stages of development for rare diseases, including 105 in development to treat rare cancers, in 2013.

Celgene is one of the leaders in this movement, dedicating much of its resources to finding solutions for patients who have rare diseases and limited treatment options. In 2013, the European Organization for Rare Diseases (EURORDIS) awarded Celgene for excellence in innovation in the field of rare diseases. “More than 30 million people across the European Union (EU) are affected by a rare disease, yet less than one percent of the identified rare diseases have an approved treatment in the EU,” Stacey Minton, director of communications for Celgene EMEA (Europe, Middle East and Africa), said. “At Celgene, we currently have five treatments for rare diseases. We spent more than seven years obtaining regulatory approval for our therapy for a rare form of the blood disease myelodysplastic syndrome, even though only about 54 people out of 100,000 are diagnosed with this disease each year. In the end, it really is about more than the statistics—we have to think about the people who need these medicines.”

Nowadays, rare does not mean overlooked, as evidenced by the support of the FDA and private companies to encourage innovative research and the development of novel therapies. As with any disease, there are always challenges for developing new treatments, especially the limited numbers of patients to enroll in clinical trials, and it can take many years to develop the right drugs. But there is hope for new treatment options, and possible cures, on the horizon for patients with rare diseases. Huber realizes how important this is. “Patients have the potential not just to survive, but to thrive.”