Accelerated approval granted for new drug for muscular dystrophy

21 September 2016

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 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.

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.

“The work of Professor Muntoni and his team, supported by the MRC Centre, has been ground-breaking, and it is a historic landmark that the FDA have approved the first antisense disease modifying treatment for duchenne” Professor Michael Hanna, Director, MRC Centre for Neuromuscular Diseases.

"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" Professor Francesco Muntoni, Director of the Dubowitz Neuromuscular Centre.

Click here to view the Great Ormond Street press release.

Click here to view the Sarepta press release.

NMCCC shortlisted for prestigious HSJ award

15 September 2016

The NMCCC has been shortlisted for a 2016 HealthService Journal (HSJ) Award. For 35 years the HSJ Awards, have recognised, celebrated, and promoted the finest achievements in the NHS.

"This is well deserved recognition for the inspiring work of the whole team. This a genuinely innovative new model of care for patients with muscle wasting neurological diseases who previously died in childhood but now transition to adult care with very complex needs. There were many significant obstacles to making this unit a reality which Ros Quinlivan and the team successfully overcame with critical support from the UCLH charity. The improvement in patient experience and patient outcomes is very significant.  Our ambition is to support the roll out this model ultimately to each NHS region across England” 

Professor Michael Hanna Consultant and Chairman of the Queen Square Centre for Neuromuscular Diseases Leadership

Professor Mary Reilly is elected to be the first female President of the Association of British Neurologists in 83 years

24 March 2015

Professor Mary Reilly has been elected ABN President from 2017-2019 and is President elect from 2015-2017.

Professor Reilly has been a consultant Neurologist at Queen Square since 1998 and was promoted to Professor of Clinical Neurology at UCL in 2010. She is head of the Division of Clinical Neurology and Co-Director of the MRC Centre for Neuromuscular Diseases in the Department of Molecular Neurosciences at UCL Institute of Neurology. She is internationally recognised for her expertise in research and clinical practice related to peripheral nerve diseases.

The Association of British Neurologists (ABN) was established 83 years ago in 1932; Professor Reilly is the first ever female President. Professor Reilly originally came to Queen Square to undertake research with Professor Anita Harding in 1991.

"To become the first female president of the ABN is a tremendous achievement and I am delighted to congratulate Professor Mary Reilly on this success. Mary worked with Professor Anita Harding who undoubtedly blazed the trail for women in neurology and it is very fitting that one of Anita’s pupils has become the first female ABN President"

Professor Michael Hanna, Director of the UCL Institute of Neurology

UCL rated top UK university by research strength in the REF2014

18 December 2014

UCL is the top-rated university in the UK for research strength in the new Research Excellence Framework 2014 published today, by a measure of average research score multiplied by staff numbers submitted. UCL researchers received a ‘grade point average’ of 3.22 (out of 4) and submitted over 2,500 staff to be assessed in REF2014, giving UCL an overall research power greater than both the University of Oxford and the University of Cambridge. 

Click here to view the MRC Centre for Neuromuscular Diseases which featured as in impact case study.

See more at:

UCL number 1 REF

UK's first complex neuromuscular complex care centre opens

9th September 2014


The UK’s first dedicated inpatient centre for people with complex neuromuscular disorders has been officially opened by leading healthcare advocate Sir Robert Francis at the National Hospital for Neurology and Neurosurgery (NHNN).

Neuromuscular Complex Care Centre official launchNeuromuscular Complex Care Centre