International Team Makes Progress Against Rare Disease

John Tacket, 15, of Michigan speaks about his illness, progeria, which causes premature aging.

Washington — A four-nation research project is bringing some relief to people who suffer a rare muscle disease, and the collaboration may blaze a trail for breakthroughs in treatment of other rare diseases.

The research team found that a drug first released in the late 1990s for treatment of irregular heartbeat eases the symptoms of people suffering nondystrophic myotonia, which causes pain and muscle stiffness. The condition can be so severe that patients are unable to open their eyes after a sneeze, or unable to loosen a grip after turning a doorknob.

Researchers in the United States, Canada, the United Kingdom and Italy reached the finding only after bringing together patients and doctors familiar with the rare condition.

“This study can serve as a blueprint for future rare-disease research,” said neurologist Jeffrey Statland at the University of Rochester Medical Center. “The study shows that by bringing together experts and patients around the world and building a common infrastructure, we can tackle rare conditions that have eluded rigorous clinical study up to now.”

Other institutions participating in the study were Brigham & Women’s Hospital in Boston; the University of Texas Southwestern Medical Center in Dallas; the London Health Sciences Centre in London, Ontario; University College London Institute of Neurology in London; and the University of Milan in Italy.

A lot of people suffer from rare diseases overall; there just aren’t many in the same city with the same condition, said a Rochester Medical Center co-author.

“Each rare disease might affect only a few thousand people, but there are thousands of rare diseases,” said Dr. Robert “Berch” Griggs. “Current estimates are that perhaps 30 million people [in the United States] are affected by some form of rare disease.”

In Europe, rare diseases are thought to afflict another 30 million, but a global estimate is difficult to produce given that hundreds of millions of people in rural, developing areas of the world never will see a specialist who might positively identify a disorder.

Neurologists estimate that only about 1 in 100,000 people have nondystrophic myotonia. With those low numbers, it’s difficult for researchers to pull together a pool of subjects of sufficient size to conduct a study that might result in a statistically significant outcome.

Pharmaceuticals companies are also reluctant to invest in research in rare diseases because the markets for successful drugs are so small.

The idea that strength in numbers might be the key to success in understanding rare diseases has been gaining supporters beyond the work led by the Rochester Medical Center. The International Rare Disease Research Consortium (IRDiRC) is a joint project of the European Commission and the U.S. National Institutes of Health began in 2009. Canada and Japan have since joined IRDiRC.

This consortium brings together multinational regulatory bodies, researchers, patient group representatives, health professionals and pharmaceutical industry representatives. The consortium aspires to produce advances that will spark the development of 200 new therapies for rare diseases and diagnostic tools for most rare diseases by 2020.

Patients who find themselves diagnosed with a rare disorder are also finding comfort in reaching out to others with similar conditions, wherever they are.

The National Organization for Rare Disorders is the U.S. society where these people find each other. NORD is dedicated to increasing awareness of the conditions and the challenges faced by people living with them. The organization also works to promote research and development of therapies.

NORD is affiliated with the like-minded European Organization for Rare Disorders.

The Rochester Medical Center study is reported in the October 3 edition of the Journal of the American Medical Association. The U.S. Food and Drug Administration and the National Center for Research Resources of the National Institutes of Health both supported the research.