Duchenne patients in the European Union with specific dystrophin gene flaws can receive the drug ataluren prior to its full approval
Update (Oct. 24, 2014): Enrollment for the phase 3 trial of ataluren is complete, with results expected in the second half of 2015. See the PTC press release of Sept. 9, 2014.
The investigational oral drug ataluren, in development to treat Duchenne muscular dystrophy (DMD) resulting from a specific type of genetic mutation, has received conditional approval in the European Union (EU). This designation means patients can receive it in the EU and EU-associated countries while additional studies are being conducted.
Ataluren — originally known as PTC124 and now bearing the brand name Translarna in Europe — is in development by PTC Therapeutics, a biotechnology company based in South Plainfield, N.J. A $1.5 million MDA grant in 2005 has been important to its development.
PTC announced the European conditional approval in an Aug. 4, 2014, press release.
"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."
About conditional approval in the EU
Conditional approval is a mechanism used by EU regulatory authorities to allow people with serious or life-threatening disorders to gain access to an experimental drug before it is fully approved. It is somewhat similar to (but not exactly the same as) the accelerated approval mechanism used by the U.S. Food and Drug Administration (FDA).
Conditional approval in the EU and accelerated approval in the U.S. both require confirmatory studies before a drug receives full approval, but they allow a new therapy to be offered to patients who meet certain criteria prior to the completion of these studies.
The drug is not yet available in the United States except to participants in an ongoing, large-scale (phase 3) clinical trial.
After the phase 3 trial has been completed and if the results are favorable, PTC plans to submit an application for full approval of ataluren in the U.S. and the EU. The company estimates this submission will be in 2016.
Lack of dystrophin protein causes DMD
DMD is caused by the absence of the muscle protein dystrophin. The disorder causes skeletal muscle weakness and loss of respiratory and cardiac function.
Ataluren is designed to restore dystrophin production
Dozens of different mutations in the gene for dystrophin can cause DMD. Ataluren targets a specific type of dystrophin mutation called a premature stop codon. This type of genetic flaw causes cells to stop making a protein before the process is complete, leading to production of short, nonfunctional protein molecules.
Premature stop codons in the dystrophin gene are the underlying cause of DMD in about 13 percent of patients. Another name for a premature stop codon is a nonsense mutation.
The strategy used by ataluren is known as stop codon read-through because it causes cells to "read through," or "ignore," erroneous stop signals in the dystrophin gene. When these stop signals are ignored, full-length, fully functional dystrophin protein can be produced in muscle tissue.
In addition to the $1.5 million grant to PTC, MDA supported early laboratory development of stop codon read-through for DMD via a $0.7 million grant in 2003 and continues to support this strategy.
Finding out whether someone with DMD has a premature stop codon (nonsense mutation) and could potentially be helped by ataluren requires genetic testing.
Ataluren now in multinational trial
Ataluren is now being tested in a phase 3, multinational trial that remains open to participants in several countries, including the U.S. Twenty-three of the 60 trial sites are in the U.S., and at least 19 of these 23 are at institutions where there are also MDA clinics.
To participate in the trial
For details and contact information about the phase 3 trial, see Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy; or enter NCT01826487 in search box at ClinicalTrials.gov.
The trial is also called the Ataluren Confirmatory Trial in DMD, or ACT DMD.
For additional information, contact PTC Therapeutics Patient and Professional Advocacy at (866) 282-5873 or (908) 912-9256 or PatientInfo@ptcbio.com.
For more information
To learn more about ataluren and its approval status in Europe and the U.S., see
To learn more about drug approval mechanisms in the United States, see