29th September 2017
World Duchenne Awareness Day

On the 7th September patients, parents and carers, from around the world, came together for World Duchenne Awareness day. Around the world supporters released digital red balloons to raise money and awareness of DMD. All donations received will be used to support a global e-learning platform on Duchenne Muscular Dystrophy (DMD). The e-learning platform provides parents, clinicians, physiotherapists and other health care providers access to information and resources on DMD. Resources will focus on different topics including respiratory care, anaesthesia and neuropsychology.

For more information about the event, please click here.

EMA Release Concept Paper on Predictive Biomarker
Based Development
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The European Medicines Agency (EMA) has released for public consultation a concept paper on predictive biomarker-based assay development in the context of drug development and lifecycle. The proposed concept paper is intended to be developed into a guideline which will replace the reflection paper on co-development of pharmacogenomic biomarkers and assays, in the context of drug development. The guidelines will provide recommendations on the interface between predictive biomarker-based assays, including companion diagnostic and the development and lifecycle of a medicine.

The concept paper is available by clicking here.

Comments should be provided using link mentioned towards the paper and sent to pgwpsecretariat@ema.europa.eu by 15 November 2017.

Consultation on NICE Guidelines for Suspected
Neurological Conditions
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The National Institute for Health and Care Excellence (NICE) have released, for consultation, a new draft guideline on the recognition and referral of suspected neurological conditions. The guidelines are due for publication in January 2018 and outline to healthcare professionals, who may have never encountered a particular condition before, the steps they should take to make an accurate referral and bring in the required specialist services. Muscular dystrophy and neuromuscular conditions are highlighted throughout the draft guideline, with a focus on identifying muscle weakness in children and adults.

Muscular Dystrophy UK (MDUK) were invited to make comments on the scope of the guidelines before work began. MDUK emphasised the vital role which GPs play in the referral process, and promoted the GP online training module which MDUK have developed in conjunction with the Royal College of General Practitioners.

To view the article in full, please click here. If you would like to provide feedback on the guidelines, contact Jonathan Kingsley (j.kingsley@musculardystrophyuk.org).

Limited Delegate Places for TREAT-NMD Conference
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The 5th International conference, taking place from 27-29th November 2017 at the Konzerthaus, Freiburg, is shaping up to be a very informative event and will be attended by international key opinion leaders and stakeholders of TREAT-NMD, including investigators, patient organizations, and clinicians. Our meeting will address progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.

Due to increasing demand, there are less than 75 spaces available for delegates, so it is imperative to book early to avoid disappointment. To register, please click here or for further information, please contact Anne Oyewole (anne.oyewole@newcastle.ac.uk) or Joanne Lee (joanne.lee@newcastle.ac.uk).

Save the Date for our Joint Translational Summer School
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Save the date! 2-6th July 2018

This joint venture between TREAT-NMD and EURO-NMD will address the following translational research aspects:

• Bench to bedside research
• Regulatory system
• Clinical trials
• Outcome measures
• Patient communication
• Registries and biobanks
• Biomarkers and –omics.

Lasting five days, the Summer School will be held at the Institute of Genetic Medicine at the University of Newcastle upon Tyne. This comprehensive course will serve as a superb foundation for those wanting to direct their medical or research career in the direction of neuromuscular diseases.

Further details and agenda will be available soon on the EURO-NMD website.

Female Adolescents with Neuromuscular Disorder:
An Unexplored Issue
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Ann-Lisbeth Højberg and Jørgen Jeppesen, of The National Rehabilitation Centre for Neuromuscular Diseases in Denmark, looked at the experiences of adolescent females with a Neuromuscular Disorder (NMD). Improvements in medical care and rehabilitation have increased quality of life and life expectancy for many people with an NMD. Puberty and sexuality, education and employment, marriage and family life, are future facts for a majority of young people. This development has revealed a lack of professional and scientific knowledge about a variety of transitional issues, in particular regarding female adolescents. With the aim of exploring female adolescent life with a NMD in more detail, Højberg and Jeppesen carried out a systematic collection of interview data across NMD-diagnoses. They found that the female adolescents had talents, and were conscious of their particular resources. Family, school, friends, and the society in general was highly valued.

Højberg and Jeppesen recommend:

1) Focus on 12-14 years old adolescents who seem to be most vulnerable.

2) To create innovative activities that are inclusive and not sedentary.

3) Focus on information about disease-specific heredity, progression, pregnancy, and consequences of reduced functions.

4) To study in detail how young women with a NMD master the transition to live independently.

5) To demonstrate how society can use female adolescents’ rich communicative skills.

To the read the full report, click here.

DMD Family Guide Homepage - Over 10,000 Visitors a Month!
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The creators of the Duchenne Family Guide website would like to thank their many volunteers who have helped to produce the online version of the Duchenne Family Guide. The online guide which uses the same information as the family guide on the TREAT-NMD website is now available in 16 different languages. This valuable source of information for families caring for Duchenne boys is now accessed by around 10,000 readers a month from around the world. The website was recently accredited by Health On The Net and now displays the HON Code certificate.

To access the latest family guides in your language, please click here.

1st International Conference on Imaging in Neuromuscular Disease
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The First International Conference on Imaging in Neuromuscular Disease will be held at Langenbeck-Virchow-Haus in Berlin from 19th - 21st November 2017.

A full and exciting programme is now finalised, which features many internationally renowned invited speakers. More than 80 abstracts have been submitted, of which 16 are selected for platform presentations. Click here to access the programme.

The conference will highlight developments and advances in all aspects of muscle imaging with sessions on diagnostic muscle imaging, new imaging techniques, texture analysis and quantitative muscle imaging.

Registration is still open and the programme committee look forward to welcoming you in Berlin for this exciting event, which will bring the imaging and neuromuscular communities together. To register, click here.

Gene Therapy Clinical Trials Begin for X-Linked
Myotubular Myopathy
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On 21st September 2017, Audentes Therapeutics announced the dosing of the first patient in ASPIRO (the clinical trial for their virus mediated gene therapy AT312). ASPIRO is a multicentre, multinational, open-label, ascending dose study to evaluate the safety and preliminary efficacy of AT132 in approximately twelve XLMTM patients less than five years of age. Preliminary data from ASPIRO is expected to be available in the fourth quarter of 2017.

Within the TREAT-NMD network we have the Myotubular and Centronuclear Myopathy Patient Registry; an international, disease-specific, patient-entered registry for these conditions. For more information about the registry you can visit the registry website or contact the Registry Curator joanne.bullivant@newcastle.ac.uk.

Further information:

Read the full press release from Audentes

Read about this trial on clinicaltrials.gov

SMA Awareness Day - 30th September 2017
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This year, SMA Support UKMuscular Dystrophy UKthe SMA Trust and TreatSMA are focusing their energies on Saturday 30th September as UK SMA Awareness Day. They will be doing all they can to make as many people as possible aware of Spinal Muscular Atrophy (SMA) and what is happening in the SMA Community.

There are many ways in which you can get involved in supporting the day, including signing up to their joint Thunderclap message which will go out on the 30th itself. The more people who sign up, the bigger the reach they will have, and the more awareness they will raise!

To find out more, click here.

16th Annual King's Neuromuscular Symposium
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King's College London have announced their 16th Annual King's Neuromuscular Symposium will take place on Friday 26 January 2018. This educational meeting is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle. It aims to provide practical, general, clinical updates as well as an introduction to the science underlying neuromuscular diseases. It should be of interest to general adult neurologists, clinical neurophysiologists, paediatric neurologists, clinical neuroscientists, allied health professionals and trainees. This year’s event will take place on King's College Hospital campus at Denmark Hill, in the stunning contemporary surroundings of the new Foetal Medicine Research Institute. Registration will open by the end of September. Please click here to register.

If you would like further information on this event, please contact Alexandra McWilliam.

DMD Family Guide - Now Available in Middle Eastern
Generated Arabic!
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We are pleased to announce that the family guide for the diagnosis and management of DMD is now available in Middle Eastern generated Arabic to download.

To view this or other translations please click here.

DMD Hub: Expanding Trial Capacity in the UK
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On the 18th September 2017, 73 stakeholders from the UK Duchenne Muscular Dystrophy (DMD) community came together at Alder Hey Children’s Hospital. Participants included leading academics and clinicians from universities and hospitals around the UK, patient groups, industry and representatives from National Institute of Health Research. The meeting served to mark the launch of the DMD Hub and provide an update on how the DMD Hub has progressed since its inception at the ‘Newcastle Plan Workshop on Duchenne Muscular Dystrophy Clinical Trial Capacity’, hosted by TREAT-NMD in 2015.

The need to increase trial capacity for DMD trials in the UK and improve trial readiness was identified. Specifically, clinicians in established UK clinical trial centres involved in multiple DMD studies were reaching capacity, while centres with capacity lacked the expertise and needed support to develop and achieve the requirements set by industry to run clinical trials in DMD.

The UK DMD Hub was set up as a partnership between UK centres of excellence (John Walton Muscular Dystrophy Research Centre in Newcastle and Great Ormond Street in London) and patient organisation Duchenne UK to address the trial capacity issues around knowledge, experience and training whilst addressing staffing issues. Through the unique partnership model of the Hub, we are able to address the issues together and share expertise to develop a network of trial ready centres in the UK able to take on interventional trials in DMD.

Within the first year of operation the Hub has launched two new trial sites at Alder Hey and Leeds and is working with additional sites (Glasgow, Bristol, Birmingham, Oswestry, London-Evelina, Cambridge and Manchester) to facilitate them to take on upcoming industry and academic led trials. Ongoing training for other sites is expected to open up additional opportunities in subsequent years.

The Hub is successfully collaborating existing infrastructures such as TREAT-NMD, the National Institutes of Health Research, the North Star Network and the DMD UK Patient Registry to develop resources whilst avoiding duplication of the significant work already achieved.

The DMD Hub website, currently under development, will be a key resource for industry, clinicians and patients. It will host an interactive map of the UK detailing clinical trial opportunities for patients, contain a repository for training material for sites and act as a one-stop shop for industry and sponsors interested in conducting trials in the UK. Issues of sustainability via innovative funding models and expansion of the model to other rare neuromuscular diseases are being implemented.

The mission of the DMD Hub is to ensure all patients with DMD, including children and adults, have access to clinical research opportunities.

1st Euro-NMD Meeting - Spaces Still Available
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The first EURO-NMD conference will take place between 29th-30th November, in Freiburg;Germany. European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and concentrated knowledge and resources. EURO-NMD unites 61 of Europe’s leading NMD clinical and research centres in 14 Member States and includes highly active patient organizations. The exciting conference programme will provide information on the work of the ERN including:

  • Updates from the Specialist disease groups including: Muscle, NMJ, Nerve, MND and Mitochondrial
  • Updates from the cross cutting diagnostic groups including: Imaging, Neurophysiology, Neuropathy and Genetics
  • Innovative e-posters
  • Unsolved / interesting NMD cases

The meeting represents an opportunity to network with global experts from the neuromuscular field.

Please click here to register. For more information, please click here.

DMD Research Overview Updated
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The TREAT-NMD research overview section for Duchenne Muscular Dystrophy (DMD) contains a succinct overview of therapeutic approaches that are in clinical development for DMD, written in everyday language. These pages have now been updated by Annemieke Aartsma-Rus to contain the latest clinical developments in the DMD field.

Funding from Duchenne Parent Project (the Netherlands) and Duchenne Parent Project Onlus (Italy) for travel costs to allow Annemieke Aartsma-Rus to attend annual meetings in the US and Italy is gratefully acknowledged.

The research overview has been translated into six different languages the latest available being German. This has been made possible thanks to Robert Palm from the Swiss patient organisation - Progena.

TREAT-NMD Conference - Accommodation
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With less than two months to go until TREAT NMD's 5th international conference, we are looking forward to welcoming you all at the Konzerthaus, in the beautiful city of Freiburg.

If you have not yet made your travel arrangements, we encourage you to book your accommodation as soon as possible to avoid disappointment. There are many hotels only a short distance from the conference and we have managed to secure discounts with the following:

To find out how to take advantage of these discounts, please contact Joanne Lee (joanne.lee@newcastle.ac.uk).

For full information on how to get to the conference, please click here.

Rare Barometer Short Survey on Rare Diseases
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Eurordis have launched a Rare Barometer Voices short survey (available in 23 languages), ahead of Rare Disease Day. If you are interested in rare diseases research, the survey only takes around 5 minutes to complete. To complete the survey, please click here.

The results for your country or disease will be made available to you upon request by emailing: rare.barometer@eurordis.org.

If you would like further information on the survey, please contact Sandra Courbier.

Magnetic Resonance Imaging (MRI) of Leg Muscles in Patients
with DM
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Dr Stojan Perić and his team at the University of Belgrade in Serbia, recently published an article in the September 2017 edition of the Journal of Neurology titled, ‘Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies’

Magnetic resonance imaging (MRI) is a test that uses a magnetic field and pulses of radio wave energy to make pictures of organs and structures inside the body.  The authors explain that there is a lack of muscle MRI studies in patients with myotonic dystrophy type 1 (DM1) and especially in those diagnosed with type 2 (DM2).  The aim of this study was to analyse fatty infiltration of leg muscles using 3.0 T MRI in 21 DM1 and 10 DM2 (genetically confirmed) adult patients, with different disease durations.

The findings of this study, along with the full article can be viewed online here.

Events and Meetings
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22nd Annual International Congress of the World Muscle Society

3-7 October

Saint Malo, France

The World Muscle Society invites you to attend the 22nd International Annual Congress of the World Muscle Society, which will be held for the ­first time in Saint Malo, France. This is the premier annual congress on neuromuscular disorders, attended by established and young physicians, researchers, therapists and neuropathologists from all over the world. You will have the opportunity to learn about the latest developments in world-wide myology during this four day international meeting, at Palais du Grand Large, from Wednesday 4th October to Saturday 7th October, with an opening reception on Tuesday 3rd October.

For further information and to register, click here.


Neurotechnix 2017: 5th International Congress on Neurotechnology, Electronics and Informatics

30-31 October

Madeira, Portugal

The Neurotechnix 5th International Congress will be a meeting point of multidisciplinary teams, of both biomedical and engineering professionals, academics and practitioners. It will promote translational discussions on how technology can meet the needs of both clinical practitioners and persons with neurological disorders. The event organisers believe that Neurotechnology shows a very high potential of enhancing human activities, involving technologies such as neural rehabilitation, neural prosthesis, neuromodulation, neurosensing and diagnosis, and other combinations of neurological and biomedical knowledge with engineering technologies. Authors are invited to submit innovative research that highlights new advancements of neurotechnology either in general or regarding a particular case, application or pathology.

For more information on submissions and to register, please click here.


Action Duchenne 15th International Conference

10-12 November

Birmingham, UK

Action Duchenne will hold their 15th International Congress at the Hilton Birmingham Metropole. Families and supporters will be able to meet and learn about all aspects of the condition from international experts, as well as to find out from other families their experiences of living with Duchenne Muscular Dystrophy. For academics and clinicians, this conference provides the opportunity to discuss the latest findings in genetic research and to share expertise in optimal standards of care.

For more information on the event and to register, click here.

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Past newsletters
29th September 2017
TREAT-NMD newsletter - 29th September 2017