PTC Therapeutics announce new clinical trial

Following on from the encouraging results of previous clinical studies investigating safety and efficacy of PTC124, PTC Therapeutics has announced that they will now begin a longer-term clinical trial in patients with Duchenne and Becker muscular dystrophies.

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What is PTC124?

PTC124 is an orally administered investigational drug that targets a specific type of mutation in the genetic code, called a nonsense mutation. The mutation creates a premature stop signal within a gene and therefore production of a complete functional protein is interrupted.

How can PTC124 help people with Becker and Duchenne muscular dystrophies?

Duchenne and Becker muscular dystrophies are characterised by the absence of dystrophin, an essential muscle protein responsible for the integrity of the muscle cells. In approximately 10-15% of all boys the condition is caused by a nonsense mutation. In those boys PTC124 has the potential to treat the underlying cause by reading through the nonsense mutation and thus restoring production of the dystrophin protein.

What is the new longer term clinical trial?

PTC Therapeutics has recently completed a Phase 2a clinical study that demonstrated proof of principle of PTC124. This smaller scale trial indicated that this investigational drug was able to partially restore full-length dystrophin production and reduce muscle fragility. The longer-term trial is aimed at understanding whether PTC124 can improve walking, activity, muscle function, and strength in boys with Duchenne and Becker muscular dystrophies and whether the drug can safely be given for a long period of time.

What will be involved in the new longer term trial?

The trial will be a multi-centre, randomised, double-blind, placebo-controlled study. To be considered for this study, participants must have had a DNA blood test of their genetic make-up and know that a nonsense mutation is the basis for their DMD/BMD. This test is known as genotyping or full-length gene-sequencing. Patients with DMD/BMD who have not been genotyped should consider discussing gene-sequencing with their treating doctor or genetic counsellor.

The trial, which will begin in a few months, involves 37 sites across the world including with three centres in the UK. These are:
• Imperial College London, Hammersmith Hospital, London
• Robert Jones and Agnes Hunt Orthopaedic NHS Trust, Shropshire
• University of Newcastle, Institute of Human Genetics, Newcastle.


PTC Therapeutics will be recruiting boys with Duchenne for the clinical trial through various channels including the DMD registry www.dmdregistry.org and the North Star Database. The North Star Database primarily collects clinical information about ambulant boys with Duchenne, but also holds basic genetic data and hence may be used as resource for clinicians to recruit patients for clinical trials.

To stay updated once the trial begins, please visit www.clinicaltrials.gov

To find out more about PTC Therapeutics, you can visit www.ptcbio.com

You can read more about Becker muscular dystrophy and Duchenne muscular dystrophy in out About Your Condition section of our website.