Patient registry demonstrating Translarna™ slows DMD progression

Here’s the latest news from PTC Therapeutics about Translarna™ (ataluren). In a recent press release, PTC announces that Translarna™ (ataluren) slows disease progression in children with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation. Enjoy reading and thank you for sharing these articles within the DMD community.


Analysis of data to date shows Translarna Preserved Ambulation for up to 5 Years Compared to Natural History

The data show that children and adolescents receiving Translarna in the real-world setting are continuing to walk years longer than untreated children and are staying more physically able. A time-to-event analysis for loss of ambulation has shown that patients on Translarna had a median age of loss of ambulation of 16.5 years of age – up to 5 years later than seen with natural disease progression in untreated children. The data were presented as a late breaker at the 23rd International Annual Congress of the World Muscle Society in Argentina.


Stuart W. Peltz, Ph.D., CEO, PTC Therapeutics: “The results from the Registry data are critical because they further substantiate the results observed in our analyses of data from previous clinical trials studying Translarna in Duchenne. Delaying the loss of ambulation is critical to these patients, as it predicts the time to loss of pulmonary function and mortality.”


Dr. Eugenio Mercuri, Professor, Pediatric Neurology, Catholic University: “These initial data are very encouraging because they provide the first, real-world evidence for the impact of Translarna when used routinely, longer term. We are seeing children who have been exhibiting first clinical symptoms of Duchenne at approximately three years of age and yet are still able to walk years after they would normally be wheelchair-bound, which is what matters most to patients and their families.”


Filippo Buccella, an author of the study and Duchenne patient advocate: “Keeping a child with Duchenne walking for as long as possible is crucial not only to maintain independence, but to delay the rapid deterioration that usually follows loss of ambulation, including loss of the use of arms, which are essential for self-care, and respiratory and cardiac complications. As a father to a son with Duchenne, slowing the progression of this devastating disease is vital to maintaining the quality of life for the patient as well as the family.”


About Translarna ™ (ataluren)

Discovered and developed by PTC Therapeutics, Inc., Translarna ™ (ataluren) is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne muscular dystrophy. Read more here.


Ataluren in Canada

At this moment, PTC Therapeutics has not applied for marketing approval with Health Canada, but it has started a conversation with the legislator.


What is a nonsense mutation?

DMD is a devastating disease that is caused by mutations in the dystrophin gene. The mutations vary in nature and account for the deletion, faulty replication, or duplication of parts of the genetic blueprint or code for protein manufacture. In other words, mutations in the dystrophin gene disrupt how protein factories in cells read its genetic code while making the dystrophin protein. The result is the absence of functional dystrophin protein in skeletal and cardiac muscles.

A change in a single base (point) of DNA can prematurely end the translation of a gene into a protein. About 10 % to 15 % of single-point mutations are nonsense mutations. They occur during the reading of messenger RNA (mRNA), which copies the genetic code during the manufacturing process, into protein.


About DMD

Duchenne muscular dystrophy (DMD) is a disease that exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.


More Links

PR NewsWire News Releases

Learn more about ataluren (Translarna™) at www.ptcbio.com

La Force VLOG Pioneers in DMD therapy

For specific updates about ataluren, you can consult and sign in on Duchenne and you



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