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31st May 2017
TREAT-NMD Conference - Early Bird Rate Deadline Extended!

We are delighted to announce that the Early Bird Registration period has been extended up to and including the 14th June. To take advantage of the reduced rate and secure your place at the conference please click here.

We're also now pleased to announce that all registration places are eligible for a free place at the Gala Dinner.

Sponsorship and exhibiting opportunities are still available - to find out more please visit our sponsorship page or contact Anne Oyewole.

Safety and Efficacy of Olesoxime in Patients with Type 2
or Non-Ambulatory Type 3 SMA: Phase 2 Trial
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Spinal Muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available.

The phase 2 randomised, double-blind, placebo-controlled trial was completed in 22 neuromuscular care centres across Belgium, France, Germany, Italy, Netherlands, Poland and the UK. Safety and efficacy of olesoxime were assessed in patients aged 3-25 years with genetically confirmed type 2 or non-ambulatory type 3 SMA.

Patients were randomized to receive olesoxime (10 mg/kg per day) in an oral liquid suspension or placebo for 24 months.

The primary outcome measure was assessed by using the Motor Function Masure (MFM) This looked at change from baseline compared with 24 months between the two treatment groups in functional domains assessed in the full analysis population. A shorter, 20-item version of the MFM, was used to assess patients younger than 6 years.165 patients were assigned randomly to olesoxime (n=108) or placebo (n=57). The change from baseline to month 24 on the primary outcome measure was 0·18 for olesoxime and –1·82 for placebo (treatment difference 2·00 points,96% CI –0·25 to 4·25, p=0·0676).

Olesoxime was safe at the doses studied, for the duration of the trial, with an adverse event profile similar to placebo. The most frequent adverse events in the olesoxime group were pyrexia (n=34), cough (n=32), nasopharyngitis (n=25), and vomiting (n=25). There were two patient deaths (one in each group), but these were not deemed to be related to the study treatment.

Although the primary endpoint was not met, secondary endpoints and sensitivity analyses suggest that olesoxime might maintain motor function in patients with type 2 or type 3 SMA over a period of 24 months. Based on these results, olesoxime might provide meaningful clinical benefits for patients with SMA and, given its mode of action, might be used in combination with other drugs targeting other mechanisms of disease, although additional evidence is needed

To read the article in full, click here.

The Burden, Epidemiology, Costs and Treatment for DMD:
An Evidence Review
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Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder which is present from birth and occurs almost exclusively in males. The study reviews contemporary evidence of burden, epidemiology, illness costs and treatment patterns of DMD.

The research adhered to published methods with information also sought from the web and contacting registries. The searches were carried out from 2005 to June 2015. Individuals with clearly defined DMD were of interest for the study and those who were carers of the individuals were also of interest.

From the searches 9,850 titles were retrieved. 58 studies were reviewed with three assessed as high, 33 as medium and 22 as low quality. It seems that two studies were found to be reporting birth and four reporting point prevalence, three reporting mortality, 41 reporting severity and/or progression, 18 reporting treatment patterns,12 reporting quality of life, two reporting utility measures, three reporting costs of illness and three treatment guidelines. Birth prevalence ranged from 15.9 to 19.5 per 100,000 live births. Point prevalence per 100,000 males was for France, USA, UK and Canada, 10.9, 1.9, 2.2 and 6.1 respectively.

A study of adult DMD patients at a centre in France found median survival for those born between 1970 and 1994 was 40.95 years compared to 25.77 years for those born between 1955 and 1969. Loss of ambulation occurred at a median age of 12 and ventilation starts at about 20 years. There was international variation in use of corticosteroids, scoliosis surgery, ventilation and physiotherapy. The economic cost of DMD climbs dramatically with disease progression – rising as much as 5.7 fold from the early ambulatory phase to the non-ambulatory phase in Germany.

This is the first systematic review of treatment, progression, severity and quality of life in DMD. It also provides the most recent description of the burden, epidemiology, illness costs and treatment patterns in DMD. There are evidence gaps, particularly in prevalence and mortality. People with DMD seem to be living longer, possibly due to corticosteroid use, cardiac medical management and ventilation. Future research should incorporate registry data to improve comparability across time and between countries and to investigate the quality of life impact as the condition progresses.

To read the full article, please click here.

Early bird registration and Abstract Submission deadline
fast approaching for inaugural Imaging in Neuromuscular
Disease Conference
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The 5th June 2017 sees the end of the Early Bird registration for both regular and industry participants for the inaugural Imaging in Neuromuscular Disease Conference, due to be held from the 19th – 21st November 2017 in Berlin. Fees range from €200 for academics/PhD students to €350 for Industry participants. Registration fees cover all costs associated with the meeting including the provision of conference material, coffee breaks, lunches, poster sessions, the welcome reception and the conference dinner. Standard registration fees will apply from the 6th June. To register please click here.

We are keen to receive abstracts on the following topics: Diagnostic Muscle Imaging, New Imaging Techniques and Texture Analysis and Quantitative Muscle Imaging. Deadline for abstract submission is the 5th June 2017 - to submit your abstract click here.

The conference programme will feature internationally-recognized invited speakers including Andrew Blamire, Carsten Bonnemann, Pierre Carlier, Bruce Damon, Kieren Hollingsworth, Hermien Kan, Richard Lerski, Martin Meyerspeer, George Radda, Fritz Schick, Volker Straub, Gustav Strijkers, Giorgio Tasca, Krista Vandenborne and Felix Wehrli and will highlight developments and advances in all aspects of muscle imaging with sessions on Diagnostic Muscle Imaging, New Imaging Techniques and Quantitative Muscle Imaging.

To discuss sponsorship opportunities and to receive a Sponsorship Brochure for this conference, please contact Olav Veldhuizen.

ACE inhibitors may offer beneficial effects in Duchenne
and Becker patients
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Data from a recent clinical trial suggests that early heart treatment could be beneficial for Duchenne (DMD) and Becker (BMD) muscular dystrophy.

The phase 3 trial “Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial”, conducted at the InCor Heart Institute, Sao Paulo, has found that it could be beneficial for people with DMD and BMD to be treated with angiotensin-converting enzyme (ACE) inhibitors before heart weakness is detected.

In this study, 42 DMD and BMD patients with signs of myocardial fibrosis and normal Left Ventricular Ejection Fraction (greater than 50%), as detected by Magnetic Resonance Imaging (MRI)), were randomised into two groups, each group receiving ACE-inhibitor treatment (enalapril up to 20mg BID) or no treatment for cardiomyopathy for a period of 2 years. The MRI analysis before and after the trial showed that the progression of heart fibrosis was significantly slower in patients who received the ACE inhibitor therapy compared to those who did not.

The study was published in the medical journal, JAMA Cardiology and is available here. For more information about the trial click here.

Duchenne UK Innovate Grants Call
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Duchenne UK is inviting proposals for innovative research projects to accelerate effective treatments of Duchenne Muscular Dystrophy and is releasing up to 1,000,000 pounds to fund them.

Duchenne UK has an impressive track record supporting research. In the recent past the charity has co-funded the phase I trial for Vamorolone, which is now in phase II. It has also supported the development of SGT-001, a gene therapy being developed by Solid Biosciences.

We are looking for projects from groups who have identified a molecule for development and for which there is compelling pre-clinical data, including data in animal models.

The co-founder of Duchenne UK Emily Crossley says:
"Supporting innovative research is at the heart of what we do at Duchenne UK. We want to change for the better the lives of people with Duchenne and we know that financing cutting edge research is the best way to provide the effective treatments families so desperately need".

The Director of Research and Patient Engagement, Naomi Litchfield says
"We are excited at the prospect of working with members of the research community with original, ground breaking ideas for treating DMD and very much look forward to seeing their proposals."

How to apply

To apply, please send an outline proposal for the research including all relevant background information, a budget, and a milestone-driven timeline. The proposal should clearly identify the participating researchers and the location for the research. The proposals should be sent to Naomi Litchfield, Director of Research and Patient Engagement: naomi@duchenneuk.org

Deadline for applications

Applications should be received by Friday 14th July 2017. Shortlisted applicants will be required to complete a TACT application. The successful candidates will be requested to present to TACT at the next available meeting, likely to be in Montreal, Canada 24-25th October 2017.

The TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary international group of world-recognized academic and industry drug development experts as well as representatives of patient foundations, regulators and institutional governmental scientific research centres.

Newborn Screening for SMA: The Views of Affected Families
and Adults
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Spinal Muscular Atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria (which are used to decide whether a disease is eligible for screening).

While studies have explored the acceptability of expanded newborn screening to the general public, the views of affected families have been largely overlooked. This is in spite of the potential for direct impacts on them and their unique positioning to consider the value of early diagnosis.

The study used an existing research cohort of affected families (adults with SMA [n = 82] and family members [n = 255]) who gave views about pre-conception and prenatal genetic screening for SMA. Here, using qualitative interview [n = 36] and survey data [n = 337], we report the views of this same cohort toward newborn screening. The majority (70%) of participants were in favour, however, all subgroups (except adults with type II) preferred pre-conception and/or prenatal screening to newborn screening.

Key reasons for newborn screening support were:

1) The potential for improved support

2) The possibility of enrolling pre-symptomatic children on clinical trials

Key reasons for non-support were:

1) Concerns about impact on the early experiences of the family

2) Inability to treat

Importantly, participants did not view the potential for inaccurate typing as a significant obstacle to the launch of a population-wide screening program. This study underscores the need to include families affected by genetic diseases within consultations on screening. This is particularly important for conditions such as SMA which challenge traditional screening criteria, and for which new therapeutics are emerging.

To read the full article please click here.

TACT Meeting (Edinburgh) Review
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) met in Edinburgh, Scotland from 29-30th April 2017 for its 15th meeting. The TACT core group also gathered on Friday 28th to discuss the running of the committee.

Saturday and Sunday brought together more than 20 multidisciplinary members of the TACT committee as well as the secretariat. We welcomed 3 new reviewers to our panel: Giulio Cossu (Manchester, UK), Jenny Morgan (London, UK) and Dimitrios Athanasiou (Athens, Greece) as well as 2 observers Becca Leary (TREAT-NMD, Newcastle, UK) and Becky Davis (clinical trials coordinator, Newcastle, UK) in order that they could learn more about how TACT works.

During the review meeting the TACT reviewers discussed the 3 proposals submitted. Within 6 weeks of the meeting the committee will generate a report providing recommendations to these applicants and a non-confidential summary of each will be published on the TREAT-NMD website in July.

The proposals reviewed on this occasion were:

  1. iPSC-derived myogenic progenitor cells for DMD – Rita Perlingeiro, University of Minnesota, USA. Lead reviewer, Kathryn Wagner
  2. RyR receptors for DMD – Alexia Blesius, Servier, France. Lead reviewer, Jim Dowling
  3. Tamoxifen for DMD – Dirk Fischer, University of Basel Children’s Hospital, Switzerland. Lead reviewer, Rudolf Korinthenberg

Plans are now underway for the next meeting which will be held from 24-25th October 2017 in Montreal, Canada. Interested applicants should contact the TACT coordinator, Cathy Turner (catherine.turner@ncl.ac.uk) as soon as possible to discuss submission in time for this meeting. We also now welcome applications in amyotrophic lateral sclerosis (ALS).

C3 Awards Grant to Dr. Melissa Spencer to Screen for
Calpain 3 Targets
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Identification of calpain 3 substrates through use of 2D DIGE and mass spectrometry, and testing muscle-building compounds in an LGMD2A model

Coalition to Cure Calpain 3 (C3) is excited to announce that we are funding a new research project with Dr. Melissa Spencer at the University of California Los Angeles. The project is titled "Identification of calpain 3 substrates through use of 2D DIGE and mass spectrometry, and testing muscle-building compounds in an LGMD2A model."Calpain 3 is a type of protein called a protease, which means that it can cleave other proteins.  Its role in muscle health has not been fully established.

The first goal of Dr. Spencer's project is to identify the targets of calpain 3's cleavage activity using a technique called 2D-DIGE to measure and compare relative amounts of proteins in normal muscle and muscle lacking calpain 3. The identification of targets will contribute to our knowledge of calpain 3's normal role in muscle health and will provide insight into why loss of calpain 3 causes muscular dystrophy.

The second goal of Dr. Spencer's project is to test several compounds that are already in the FDA pipeline to determine if they will also be effective in LGMD2A. These compounds promote muscle growth and are currently in development for other forms of muscular dystrophy. If Dr. Spencer's research results show that these compounds result in improved muscle size, improved function, and lack of toxicity in LGMD2A models, then this will suggest that these compounds may be beneficial for LGMD2A patients.

Dr. Spencer states, "We are hopeful that this funding from C3 will allow us to make fundamental insights about the normal function of calpain 3, and from these insights, we hope to identify new drug targets.  We are also excited about the possibility of testing compounds that are closer to the clinic and may be beneficial to patients in the short term."

Dr. Spencer's project is exciting for several reasons. It will:

• contribute to our knowledge about calpain 3's biological role,

• help us understand why dysfunctional calpain 3 causes LGMD2A,

• test a class of compounds for safety and efficacy in a disease model.

Please visit the Coalition to Cure Calpain 3 website for more information.

Watch the Official RD-Connect Video
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RD-Connect is an EU-funded scientific infrastructure project developing an integrated platform for rare disease research. The platform connects databases, registries, biobanks and clinical bioinformatics to help researchers analyse and share genomics data, and improve patients’ lives. To explain its work to scientists as well as to the general audience, RD-Connect has released an animated video, which in 2.5 minutes gives an overview on the project.

To increase its impact, the video is available in 7 language versions: English, French, Spanish, Italian, German, Russian and Arabic with subtitles in over 40 languages. The video had its premiere on the 3rd of May at the RD-Connect annual meeting and Outreach Day in Berlin.

In addition, RD-Connect has published videos explaining the RD-Connect work on biobanks, data sharing and the Human Phenotype Ontology, as well as a tutorial on how to identify genetic defects in individual patients using the RD-Connect genomics platform. All videos are available to watch on the RD-Connect YouTube channel, as well as on the RD-Connect website, Facebook and Twitter.

DMD Masterclass (Lisbon) - Review
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I recently returned from one of the most valuable and interesting training courses that I have attended in a long time. Along with 2 colleagues from Newcastle, I travelled to a TREAT-NMD Duchenne Muscular Dystrophy (DMD) Masterclass in Lisbon on 18-19th May.

The format was a varied and interesting mix of lectures and practical demonstrations along with break out discussion groups and plenty of time for questions. There were ~ 70 participants from around the world including the UK, Italy, Russia, Netherlands, Poland and Portugal. We heard from a range of experts in Duchenne research, care and diagnosis. As someone who works with colleagues from across the field, I found the insight into different areas really useful, especially to see how challenges and solutions are managed in different countries and by different teams. One of the best things was realising how much these groups with different experiences but one common aim, could learn from each other.

During one session, the genetics of DMD was explained by Annemieke Aartsma-Rus in a way that was not over-simplified but yet was engaging and accessible. This was then linked to the pro-s and cons of different diagnostic tests and we all enjoyed putting this into practice by trying to answer questions about diagnosing different cases.

The importance of physiotherapy was presented but also shown with a series of practical demonstrations from Marina di Marco and there was opportunity for attendees to discuss best practices and different set-ups in their own countries.

We heard from two patient representatives, Filippo Buccella and Dimitrios Athanasiou on the impact of Duchenne muscular dystrophy on family life, the huge possibilities for boys and men living with the condition to achieve their goals and the role of patient advocacy groups in care and therapy development for DMD.

All were in agreement – TREAT-NMD, patient groups, professionals working every day with Duchenne families, those carrying out basic research or clinical trials – that by working together, by sharing best practice, sharing data and information, talking together about solutions to problems, we can all achieve more and more quickly.

The masterclass was funded by an unrestricted educational grant from PTC Therapeutics to TREAT-NMD.

Marie Skłodowska-Curie Actions, Fellowship Opportunity
for POSTDOC on Neuromuscular Disorders
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There is an opportunity for an outstanding candidate to apply for a Marie Skłodowska-Curie Actions, Individual Fellowship (IF) under the current call, to work at Fundació Sant Joan de Déu/Institute of Paediatric Research Hospital Sant Joan de Déu (IRP-HSJD), under the supervision of Dr. Cecilia Jimenez-Mallebrera on a highly multidisciplinary project on the field of neuromuscular disorders. The group on Translational Research on Neuromuscular Disorders led by Dr. Jimenez-Mallebrera is focused on two main areas: a) Muscular dystrophies, including Duchenne muscular dystrophy (DMD) and congenital muscular dystrophies (CMD), with a special focus on the role of the extracellular matrix and collagen VI, and b) Mitochondrial diseases including mithocondrial DNA depletion syndromes affecting muscle.


We are a multidisciplinary group working in the diagnosis, management and research of paediatric neuromuscular diseases. We are an accredited national and European reference centre (CSUR and Neuromuscular European Reference Network) for this group of inherited rare diseases. We collaborate closely with several groups in Europe and in USA.

The Institute of Paediatric Research is based at the Hospital Sant Joan de Déu which is one of the leading Hospitals in Europe for childhood and adolescence.

We seek for highly talented experienced researcher with a Ph.D. degree in Life, Biomedical Sciences, Medicine and related disciplines to develop an ambitious project program focused on Congenital Muscular Dystrophies.Successful applicants are expected to work in an interdisciplinary team, managing multiple tasks, having good organizational skills, and willingness to work outside their core expertise. Good knowledge of both spoken and written English is required.

Interested candidates are strongly advised to submit a covering letter and CV to Dr. Cecilia Jimenez-Mallebrera

Closing date: 15th June

For more information please click here or contact Dr. Cecilia Jimenez-Mallebrera

Meetings and Events
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2017 MDF Annual Conference

8 - 9 September

San Francisco, USA

The Myotonic Dystrophy Foundation (MDF) is pleased to announce the 2017 MDF Annual Conference, which takes place from the 8th - 9th September 2017, at the Hyatt Regency San Francisco hotel in San Francisco, CA. This year's conference program will include a host of sessions exploring research, drug development and disease management, and provide formal and informal community networking opportunities.

For the first time since 2011, the International Myotonic Dystrophy Consortium biennial DM research meeting (IDMC-11) and the MDF Annual Conference will be jointly presented. IDMC-11 will take place between September 5-9, 2017, and the 2017 MDF Annual Conference will occur September 8-9. This unique opportunity will bring together the global community of DM researchers, clinicians and families via an exciting array of joint sessions during the 2017 MDF Annual Conference.

For more information on the event, please contact Paul Formaker via email or on 4158727924.


ANN Scientific Meeting

18 July

Royal Children’s Hospital, Australia

The Australasian Neuromuscular Network (ANN) will be holding their 6th Annual Scientific Meeting on the 18th of July 2017. The meeting will be taking place at the Royal Children's Hospital in Melbourne Australia.

Please click here for further details about speakers and to view the agenda.

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31st May 2017
TREAT-NMD newsletter - 31st May 2017
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