Queen Square Centre for Neuromuscular Diseases



2018 UK Neuromuscular Translational Research Conference

The eleventh UK Neuromuscular Translational Research Conference was held on 19th and 20th April 2018, at Fitzwilliam College, Cambridge.
We were very pleased that this conference continued to be jointly hosted by the MRC Centre for Neuromuscular Diseases and Muscular Dystrophy UK. Major translational themes this year included:

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CNMD team run their 10th Vitality London 10,000 on 28th May 2018

On 28 May 2018, Professor Mike Hanna led the CNMD Team in running The Vitality London 10,000 race. This was the team’s tenth consecutive year participating in the event, and they aim to raise £10,000 for The National Brain Appeal to support training at The Centre for Neuromuscular Diseases.

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MRC Centre hosts fundraising ball, Mission Possible, hosted by Eddie Redmayne

The Queen Square Centre for Neuromuscular Diseases held a spectacular fundraising ball on 12th May, with Oscar winner Eddie Redmayne and Richard Arnold as special guests. It was an incredible evening - with thanks to all our donors, Eddie and Richard for their support, and to everyone who attended!

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Queen Square Advances in Mitochondrial Medicine 2018

http://www.ucl.ac.uk/cnmd/events/conferences-courses-and-workshops/archive/2018 Registration is now open for this one day course designed for adult and paediatric consultant and trainee clinicians, and clinical scientists with an interest in mitochondrial diseases. An update on the recent developments in diagnostics for paediatric and adult mitochondrial diseases will be provided, with an emphasis on clinical cases, management and trials.

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Arimoclomol international efficacy trial kick-off meeting in LA

Profesor Michael Hanna in Los Angeles for an Investigators meeting, kicking off the international efficacy trial based on MRC centre & Kansas preclinical & phase 2 data. With their partner Orphazyme, this ~€14m trial will establish whether heat shock protein upregulation improves the disabling muscle disease inclusion body myositis. pic.twitter.com/KjrleqxGF1

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Orphazyme assumes sponsorship of Phase II/III arimoclomol sIBM trial

On December 14, 2017, Orphazyme A/S, University of Kansas Medical Center, and UCL announced that Orphazyme formally assumes the sponsorship of the Phase II/III arimoclomol trial for the neuromuscular disease sporadic Inclusion Body Myositis (sIBM).

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Collaborative work with Dumonceaux and Voit in Nature Communications has important implications for myostatin therapies

Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues. Several drugs targeting the myostatin pathway have been used in clinical trials to increase muscle mass and function but most showed limited efficacy. Here we show that the expression of components of the myostatin signaling pathway is downregulated in muscle wasting or atrophying diseases, with a decrease of myostatin and activin receptor, and an increase of the myostatin antagonist, follistatin. We also provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotubularin coding gene Mtm1) that a down-regulated myostatin pathway can be reactivated by correcting the underlying gene defect. Our data may explain the poor clinical efficacy of anti-myostatin approaches in several of the clinical studies and the apparent contradictory results in mice regarding the efficacy of anti-myostatin approaches and may inform patient selection and stratification for future trials.

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Tracking disease progression in neuromuscular diseases with MRI

An Institute of Neurology study published in Lancet Neurology this week provides important prospective evidence that quantitative MRI can reliably and sensitively track disease progression in Neuromuscular Diseases. The research shows that the MRI biomarkers developed by the MRC Centre team have real potential to become the widely adopted surrogate endpoint in neuromuscular trials.

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NMCCC report

During the Bob and June Prickett Churchill fellowship in 2014, Kathryn Munro visited the NMCCC. She said of the centre:

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NIHR awards £450,000 for rare neuromuscular diseases

The National Institute of Health Research (NIHR) Rare Diseases Translational Research Collaboration has awarded £450,000 to extend research into rare neuromuscular diseases. 

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Arimoclomol eases IBM in small trial

Arimoclomol showed promise as a treatment for the most common type of inflammatory myopathy in adults over age 50 in a 1-year, phase IIa, "proof-of-concept" study. Not only was the novel oral agent "well tolerated," which was the study’s main objective to assess, but it also showed early signs that it could be effective in the treatment of patients with sporadic inclusion body myositis (IBM). Indeed, there was a trend toward slower deterioration in physical function and muscle strength for arimoclomol when compared against placebo at 8 months’ follow-up.

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New Sister Centre Partnership with The University of Iowa

The University of Iowa Department of Neurology is celebrating the recent expansion of its Neuromuscular Division and the new sister centre partnership with the National Hospital, Queen Square, London, with an exciting symposium focusing on the diagnosis, management, and therapies of genetic diseases of nerve and muscle. Prof Hanna, the MRC Centre Director gave a guest lecture at its inaugural event, and has been awarded the honour of Adjunct Professor in the Faculty of Neurology.

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