DMD, BMD: Trial of Ataluren in Nonwalkers

Update (March 3, 2010): An update to the article Ataluren Results Disappointing was posted.

MDA has provided a grant of up to $1 million to the biotech firm PTC Therapeutics for a clinical trial of ataluren (formerly called PTC124) in boys with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) who are nonambulatory (no longer walking).

In addition to being important in terms of testing ataluren, the study is significant for being among the first to evaluate an experimental treatment in nonambulatory DMD and BMD patients.

The one-year, phase 2a trial is being conducted in approximately 30 boys and young men with DMD and BMD who are at least 7 years old and have a type of mutation in the dystrophin gene known as a "nonsense," or "premature stop codon," mutation.

The dystrophin gene carries the instructions for the dystrophin protein, which is missing in DMD and diminished in BMD.

The investigators will evaluate the safety of ataluren in trial participants, as well as examining the best methods for measuring functional abilities in patients who have lost independent mobility. The use of several outcome measures of physical, pulmonary and cardiac function in patients with advanced disease will be assessed.

About ataluren

Ataluren is PTC's experimental compound designed to tell cells to bypass, or "read through," molecular signals in the gene for dystrophin that would otherwise erroneously instruct the cells to prematurely stop protein synthesis.

Preliminary tests in DMD and BMD patients have shown that ataluren can cause synthesis of functional dystrophin protein molecules.

About the trial

This trial will take place at six sites, including the five institutions that make up the MDA DMD Clinical Research Network (see Speeding the Course of Clinical Trials: MDA Clinical Trial Network Gets to Work), located at Washington University in St. Louis; Boston Children's Hospital; Nationwide Children's Hospital in Columbus, Ohio; the University of California, Davis (UC Davis); and the University of Minnesota in Minneapolis; and also includes the University of Newcastle in Newcastle Upon Tyne in the United Kingdom. Not all sites are recruiting at this time.

Participants will need to have undergone genetic testing showing the presence of a nonsense mutation in the dystrophin gene (an MDA clinic team can refer patients for this kind of testing). They also must have been nonambulatory for at least one year and meet other study criteria.

PTC is also conducting a large-scale test of ataluren in boys with DMD and BMD who are still walking and who have a nonsense mutation in the dystrophin gene (see PTC124 - Phase 2b Study of Efficacy and Safety). Results of the large-scale trial in walking boys are expected in the first half of 2010.

For more information

Contact Diane Goetz at PTC Therapeutics at (866) 282-5873 or (908) 912-9256 or; and see Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated DMD, BMD. PTC Therapeutics is located in South Plainfield, N.J.

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