​Drug for Duchenne Muscular Dystrophy shows promise in clinical trial

An international clinical trial has found that the drug ataluren can improve mobility for children with a severe form of Duchenne muscular dystrophy (DMD).The trial was led in part by GOSH researchers Professor Francesco Muntoni, Clinical Paediatric Neurologist at GOSH, and Professor Thomas Voit, Director of the National Institute for Health Research (NIHR) GOSH Biomedical Research Centre.

DMD is a muscle wasting condition caused by mutations in the genetic code, which result in a lack of dystrophin – a protein that maintains muscle strength and structure. DMD affects around 2,500 boys in the UK but there are currently few treatment options. Patients progressively lose the ability to walk and usually need to use a wheelchair by the time they are in their early twenties.

In around 13% of DMD patients, a specific error in the genetic code called a ‘stop mutation’ means that a shorter non-functioning version of dystrophin is produced. In the trial, researchers tested the drug ataluren, which overcomes this stop mutation and restores some of the body's ability to produce dystrophin.

After taking ataluren three times a day for a year, a subgroup of patients with DMD showed an improvement in the six minute walking test, a measure of mobility used to indicate muscle strength, when compared to patients given a dummy drug or placebo.

Professor Voit said: “This research shows that ataluren can slow disease progression in a subset of DMD patients with a specific type of gene mutation known as a stop mutation). This is a highly targeted approach and is one of several trials underway at GOSH aiming to bring cutting edge treatments to patients with this debilitating condition”.

This Phase 3 trial, which was recently published in The Lancet, recruited 230 boys between the ages of 7 and 16 from 18 countries across the world. GOSH patients on the trial were treated in the purpose-built NIHR GOSH Clinical Research Facility under the care of expert staff.

Following promising results from Phase 2 trials, the UK's National Institute of Clinical Excellence (NICE) last year agreed that ataluren should be made available to DMD patients carrying stop mutations as part of a five year 'managed access' programme, while more data is collected on its ability to delay the loss of walking ability. The results of the latest trial, along with other research currently underway, aims to provide this evidence.

If successful, ataluren will be continue to be available to DMD patients over the age of five. The drug is also under evaluation by the US Food and Drugs Administration (FDA).

Read more about Joshua's experience of taking part in a clinical trial for Duchenne muscular dystrophy at GOSH.