Accelerated approval granted for new drug for muscular dystrophy

The prospect of widespread access to a life-changing drug for children with a rare muscular disorder is a step closer today after the United States Food and Drug Administration (FDA) granted accelerated approval for a new medication.

Eteplirsen, the first drug approved to treat patients with Duchenne Muscular dystrophy (DMD), was originally developed by a UK consortium led by Professor Francesco Muntoni, Director of the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital (GOSH) and the UCL Great Ormond Street Institute of Child Health. Professor Muntoni is one of the theme leads for the NIHR Great Ormond Street Biomedical Research Centre (BRC), the only centre of its kind in the UK dedicated to paediatric research.

Duchenne Muscular dystrophy (DMD) is a devastating condition that affects one in 5,000 male babies, with around 100 new cases diagnosed in the UK each year. The disorder is caused by errors in the dystrophin gene, which affects the production of an essential muscle protein called dystrophin. Boys diagnosed with the condition experience progressive muscle weakness due to the breakdown, and loss, of muscle cells. By age 8-12, boys become unable to walk and by their late teens or early twenties the condition can become severe enough to limit life expectancy.

The newly approved drug, Eteplirsen, will be used to treat patients with a specific subset of mutations of the dystrophin gene affecting 13 per cent of boys living with DMD. The drug, which is given intravenously at regular intervals, ‘skips’ a part of the gene that makes dystrophin, exon 51. It allows the body to make a shortened form of the dystrophin protein, alleviating some of the symptoms of Duchenne Muscular dystrophy.

Professor Francesco Muntoni said: “It’s incredibly welcome news to see Eteplirsen fast-tracked after our work to develop it here at Great Ormond Street Hospital. There are currently very few treatment options for boys with Duchenne Muscular dystrophy, who face severe health challenges. This drug could improve their symptoms and give them enhanced mobility for longer.”

The drug was filed by Sarepta Therapeutics for accelerated approval by the FDA and is planned for immediate clinical use in US while the process of approval in the EU is underway.

The findings from the original study on Eteplirsen were reported in the Lancet in 2011. The first patient to receive the systemic injection of this novel compound was performed in the BRC-supported Somers Clinical Research Facility at GOSH. The study, funded by the Medical Research Council and coordinated by Professor Muntoni, recruited 18 children from all over England and was conducted in two UK sites, London and Newcastle. 

Last week the NIHR Great Ormond Street Biomedical Research Centre (BRC) was awarded £37 million in funding to continue to drive forward translational research into rare diseases in children between 2017-2022. The Centre is the only one of its kind in the UK dedicated to paediatric research.

The Centre currently supports another trial coordinated by Professor Muntoni, funded by an EU grant, to develop a novel therapy for another subgroup of boys with Duchenne Muscular dystrophy. For more information visit