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PTC Therapeutics Announces Initial Data from Patient Registry

October 9, 2018
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PTC Therapeutics Announces Initial Data from Patient Registry Demonstrating Translarna™ (ataluren) Slows Disease Progression in Children with Duchenne Caused by a Nonsense Mutation

SOUTH PLAINFIELD, N.J., Oct. 6, 2018 /PRNewswire/ — PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced preliminary data from the first international drug registry for Duchenne patients receiving Translarna™ (ataluren), underscoring the long-term clinical benefit of Translarna when used in routine clinical practice in delaying irreversible muscle loss in children with Duchenne caused by a nonsense mutation, when compared with published 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.

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

Patients who received Translarna in routine clinical practice also experienced a slower decline in their physical function compared with the placebo arm of Phase 3 Study 020, as measured by a series of timed function tests. Safety outcomes for patients in the STRIDE Registry were consistent with the known safety profile of Translarna.

“These initial data are very encouraging because they provide the first, real-world evidence for the impact of Translarna when used routinely, longer term,” said Dr. Eugenio Mercuri, Professor, Pediatric Neurology, Catholic University. “We are seeing children who have been exhibiting first clinical symptoms of Duchenne at approximately 3 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.”

The analysis was based on data captured from 216 patients, the majority of whom had not been previously enrolled in an ataluren clinical trial, across 11 European countries and Israel. Patients had a mean age of 9.8 years at first assessment and had been diagnosed with Duchenne caused by a nonsense mutation at approximately five years of age. Almost 90% had previously or were still receiving corticosteroids.

“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,” said Filippo Buccella, an author of the study and Duchenne patient advocate. “As a father to a son with Duchenne, slowing the progression of this devastating disease is vital to maintaining quality of life for the patient as well as the family.”

About Translarna (ataluren)
Translarna (ataluren), discovered and developed by PTC Therapeutics, Inc., 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. Translarna, the tradename of ataluren, is licensed in the European Economic Area for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged two years and older. Ataluren is an investigational new drug in the United States. The development of ataluren has been supported by grants from the Muscular Dystrophy Association; FDA’s Office of Orphan Products Development; National Center for Research Resources; National Heart, Lung, and Blood Institute; and Parent Project Muscular Dystrophy.

About the STRIDE Registry
The STRIDE (Strategic Targeting of Registries and International Database of Excellence) Registry is an ongoing, multicenter, observational study of the safety and effectiveness of Translarna in routine care. It is the first patient data repository to provide real-world experience regarding the long-term use of Translarna in routine clinical practice. Enrolled patients will be followed for at least 5 years from the date of enrollment, or until withdrawal from the study. As of 9 July 2018, 216 patients with a mean age of 9.8 years had been enrolled across 11 countries in Europe and Israel.

Effectiveness information may include neuromuscular function (as measured for example by timed-function tests, the North Star Ambulatory Assessment, and Performance of the Upper Limb (PUL) measures, cardiac function (including echocardiogram where available), pulmonary function (including spirometry measures), and quality of life measures. Assessments of musculoskeletal health, rehabilitation, orthopedic and gastrointestinal management, as well as other measures of psychosocial management, will be collected to allow for comparison of patient health-management activities in routine clinical care to those of published treatment guidelines.

STRIDE is a collaborative partnership between TREAT-NMD and PTC Therapeutics, led by a Steering Committee comprised of leading experts in Duchenne, patient advocates from around the world and PTC representatives.

The Registry also fulfils a post-marketing commitment to the Pharmacovigilance Risk Assessment Committee of the European Medicines Agency.

TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network’s focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide. The network has developed from its European roots to become a global organization that brings together leading specialists, patient groups and industry representatives to ensure preparedness for the trials and therapies of the future while promoting best practice today.

Further information about TREAT-NMD can be found here:

About Duchenne Muscular Dystrophy
Primarily affecting males, Duchenne muscular dystrophy (Duchenne) is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk as early as age ten, followed by loss of the use of their arms. Duchenne patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties.

More information on the signs and symptoms of Duchenne can be found at:

About PTC Therapeutics, Inc.
PTC is a science-led, global biopharmaceutical company focused on the discovery, development and commercialization of clinically-differentiated medicines that provide benefits to patients with rare disorders. Founded 20 years ago, PTC Therapeutics has successfully launched two rare disorder products and has a global commercial footprint. This success is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need.