Quest Magazine

Scientists at the biopharmaceutical company Genzyme, working with mice, say they have modified and improved an existing experimental strategy to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

In the United States, a disease or disorder is defined as “rare” when it affects fewer than 200,000 Americans at any given time; in Europe, when it affects less than one in 2,000 people.

Clearly, we’re talking about very small numbers of people. But put them all together, and the numbers tell a different story. More than 6,000 rare diseases affect more than 60 million people in Europe and the U.S. alone — some 100 million people worldwide.

Trials of the experimental muscular dystrophy drug ataluren showed that the drug was generally well-tolerated and slowed the rate of decline in walking ability, compared to the placebo group.

After consulting with regulatory agencies in Europe and the United States, biopharmaceutical company PTC Therapeutics has decided to move ahead with a global, phase 3 confirmatory study of ataluren. Trial sites will be in the U.S. and at least 10 other countries.

The experimental drug AT2220 has shown benefit as an enhancer of enzyme replacement therapy for the metabolic muscle disorder Pompe disease (acid maltase deficiency).

The drug, a pharmacological chaperone, is designed to:

Prednisone and other drugs in the corticosteroid family have become standard treatment for Duchenne muscular dystrophy (DMD) in much of the world for almost a decade. In this disorder, they slow the decline of muscle function and prolong walking ability. However, corticosteroids have significant side effects, such as weight gain, bone loss, cataracts and behavior changes.

Researchers conducting a study of natural history and biomarkers in infants with type 1 spinal muscular atrophy (SMA) currently are recruiting participants at 15 locations across the United States.