US FDA Grants Expanded Approval of ELEVIDYS Gene Therapy for DMD Patients Ages 4 and Above

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First Drug for Duchenne Muscular Dystrophy Gets 'Conditional Approval' in Europe

CHICAGO, Aug. 4, 2014 — A drug called ataluren (brand name Translarna), in development to treat a subset of patients with Duchenne muscular dystrophy (DMD) has received "conditional approval" in the European Union.

This is the first drug specifically developed for and tested in Duchenne muscular dystrophy to receive approval in any country. PTC Therapeutics, the drug’s developer, announced the approval in an Aug. 4, 2014, press release.

Conditional approval is a designation used in the EU that allows drugs for serious or life-threatening disorders to be made available to patients while results of confirmatory studies are awaited. The approval can be revoked or become a full approval depending on the results of the confirmatory studies. In the meantime, patients can obtain it through their physicians in the 31 European countries (28 countries of the EU and three EU-associate countries).

"This is a day to remember for the Duchenne community," said neurologist Valerie A. Cwik, MDA's chief medical and scientific officer. "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."

Ataluren, developed by PTC Therapeutics of South Plainfield, N.J., acts by changing the way muscle cells interpret genetic information, coaxing them to produce a needed protein called "dystrophin" despite the presence of a mutation in the dystrophin gene. MDA gave PTC $1.5 million for the ataluren’s development in 2005.

The drug, which is taken by mouth, targets a particular type of genetic mutation known as a "nonsense mutation" or "premature stop codon," which is present in about 13 percent of DMD patients. This type of mutation results in the making of a protein that is not complete and is therefore not functional.

PTC plans to pursue approval of ataluren in the United States, but the EU approval does not have any direct bearing on U.S. approval. The company is currently conducting a large-scale, multinational trial of the drug in boys with DMD, and its path forward in the U.S. is contingent on the results of this study. PTC estimates that it will submit an application to the U.S. Food and Drug Administration (FDA) for ataluren to treat DMD in 2016.

About DMD

DMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Caused by mutations in the gene that makes dystrophin (a protein that normally protects muscle cells and keeps them intact), DMD eventually weakens all skeletal muscles (including those used for breathing) and the heart. DMD affects approximately one in 3,500 boys with an estimated patient population exceeding 50,000 worldwide.

About MDA

The Muscular Dystrophy Association is the world’s leading nonprofit health agency dedicated to saving and improving the lives of anyone with muscle disease, including muscular dystrophy, amyotrophic lateral sclerosis (ALS) and other neuromuscular diseases. It does so by funding worldwide research to find treatments and cures; by providing comprehensive health care services and support to MDA families nationwide; and by rallying communities to fight back through advocacy, fundraising and local engagement. Visit and follow us at and @MDAnews. Learn more about MDA's mission by watching this video.