Though the approval is ‘conditional’ for this new Duchenne muscular dystrophy (DMD) drug, the eventual possibilities are reason to hope.
For decades, researchers have looked for a legitimate and effective treatment for Duchenne muscular dystrophy. Patients have been counting on the possibility that something worthwhile would emerge. Now, in an exciting development, the first-ever drug for this debilitating disease has received conditional approval in Europe.
In the European Union (EU), ‘conditional approval’ is granted when a drug designed for serious and life-threatening conditions is deemed safe enough to use for patients while the results of further testing and studies are confirmed. If the results of the studies come back as non-optimal, the approval could be revoked. This approval makes the drug available in 31 countries within Europe, making it a huge development.
The drug is called Ataluren and was developed in South Plainfield, NJ, by PTC Therapeutics. It changes the way muscle cells read genetics and causes them to produce the protein dystrophin. This protein is responsible for keeping muscle cells strong and intact.
MDA chief medical and scientific officer Valerie A. Cwik said, “This is a day to remember for the Duchenne community. The approval of Ataluren in the EU represents tangible hope that treatments are within reach. MDA has been supporting Ataluren’s development from its early stages, and we’re eagerly awaiting the results of a large-scale, ongoing trial of this drug that may pave the way for it to become available in the U.S. and around the world.”
In DMD, the gene that normally produces the protein suffers a mutation which causes the dystrophin to be non-functional because it’s incomplete. This results in a degenerative condition that atrophies and weakens skeletal muscles and the heart, causing circulatory and respiratory issues. There are currently more than 50,000 DMD patients worldwide.
In 2005, the Muscular Dystrophy Association (MDA) contributed $1.5 million to PTC for the development of Ataluren. This conditional approval is the result of nearly a decade of development. The drug is taken orally and targets the “premature stop codon.” Also known as a “nonsense mutation,” this causes the body’s dystrophin to be incomplete.
There are two drawbacks at the moment. First, the mutation targeted by Ataluren is present in only about 13% of DMD patients and, second, the EU approval has no bearing on approvals in the United States. Currently, approval in the U.S. will be contingent upon the results of an ongoing multinational study testing the drug on boys diagnosed with DMD.
Even with these drawbacks, this is a case where the first step is a big one, and the future looks just a little brighter for those diagnosed with DMD. We’re including a somewhat-lengthy webinar about the drug and what it means for people living with Duchenne muscular dystrophy. If you or someone you love has DMD, it’s definitely worth watching.