Research & Development
PTC Therapeutics Presents Initial Data from Patient Registry Demonstrating Translarna Slows Disease Progression in Children with Duchenne Caused by a Nonsense Mutation
8 October 2018 - - US-based PTC Therapeutics, Inc. (NASDAQ: PTCT) has received 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 company said.

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 five 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.

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.

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.

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.

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 five 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 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.

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.

PTC is a science-led, global biopharmaceutical company focused on the discovery, development and commercialisation 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.


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