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24th May 2018
Professor Katie Bushby Retires

After 29 years at Newcastle University, Professor Katie Bushby MD FRCP has announced her retirement as Professor of Neuromuscular Genetics from the end of May. 
Along with Volker Straub, Katie was one of the founding co-ordinators of the TREAT-NMD Network of Excellence and was central to the success of its establishment in 2007 and subsequent execution. This enabled TREAT-NMD's development from European roots to the successful global alliance that exists today. 

Whilst her presence will be hugely missed, Katie's influence and legacy will continue to have an enormous impact on the international neuromuscular disease field. Although officially retiring, Katie plans to stay involved in key aspects of the John Walton Muscular Dystrophy Research Centre and the TREAT-NMD network via an honorary position as Professor Emerita at Newcastle University.

The TREAT-NMD Executive Committee and secretariat, as well as the entire team of the John Walton Muscular Dystrophy Research Centre, wish Katie a wonderful and fulfilling retirement and would like to express huge gratitude for all she has done to benefit the lives of people living with neuromuscular conditions.

Standards of Care for SMA – Open Access
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In the January 2018 TREAT-NMD newsletter we announced the publication of the ‘Diagnosis and management of spinal muscular atrophy’, published in two parts in Neuromuscular Disorders.

We are now thrilled to announce both parts of the publication are now open access, meaning that the publication is now freely accessible to all:

1. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

2. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

TREAT-NMD is working with SMA Support UK, MDUK, SMA Europe and Cure SMA to produce an updated family guide.

ERN Neuromuscular Summer School
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The European Reference Network (ERN) for neuromuscular diseases together with TREAT-NMD, are hosting a Translational Summer School.

The course costs €500 and will be held between 2-6 July in Newcastle-upon-Tyne, UK.

Attendees will benefit from a comprehensive grounding in the translational research pathway from bench to bedside.

Although this course focuses on translational research in the context of neuromuscular diseases, the processes, principles and concepts that underpin this summer school are applicable to many different disease areas.

The ERN would warmly welcome attendees from these different disease areas as their experiences, understanding and input would only go further to enhance the learning environment for all concerned.

For more information, please see their Newsletter, by clicking here.

To apply for a place please click here.

Keep in Touch
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As you may have heard, the law regarding data protection is changing.

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Muscle MRI in Dysferlinopathy Patients - Publication
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Muscle MRI in dysferlinopathy patients: Pattern recognition and implications for clinical trials

Over 200 individuals are participating in the International Clinical Outcome Study (COS), well exceeding their initial goal of 150 patients. Every participant is critical because it is such a rare disease.  Therefore, all participants need to complete all 6 visits of the study so that there is enough data to do the necessary analysis and draw conclusions from the data. The Jain Foundation along with Newcastle University are coordinating the study across 15 centers worldwide. The study is funded by the Jain Foundation.

This paper, published in JNNP, includes cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. Muscle patterns involved in the disease were analysed using hierarchical analysis and presented as heatmaps, along with the results of MRI scans, which were correlated with relevant functional tests for each region of the body analysed. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment. The study shows that there is a pattern that can be considered as characteristic of dysferlinopathy, defining the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials.

To read the full article, please click here.

Duchenne Parent Project Netherlands: Call for grant applications
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The Duchenne Parent Project Netherlands (DPP NL) promotes research in the search for a cure for Duchenne Muscular Dystrophy. DPP NL sponsors promising research projects and fellowships, fast exchange of data and stimulates international collaboration. Researchers from all countries are invited to submit a research project to DPP NL. Duchenne Parent Project NL has invested over 20 million euros in research towards viable treatments for Duchenne Muscular Dystrophy over the last 20 years.

In contrast to other years, in 2018 DPP NL will only welcome grant applications related to nutrition and DMD. Research towards optimal nutrition for DMD patients is an important but an underserved area, our call for grant applications will be focused on research related to nutrition for Duchenne Muscular Dystrophy. In the early stages of Duchenne weight gain is common whilst in the latter stages, patients are at risk of malnutrition often due to chewing, swallowing and GI problems. Not many studies, both preclinical and clinical, with regards to different nutrients and the use of dietary supplements have been performed. There is a need for natural history data and good outcome measures regarding body composition and metabolism tailored to DMD patients. Good guidelines for maintaining a healthy weight and nutritional intake are currently lacking, as well as advice on how to persuade parents and patients to keep a healthy diet.

The deadline for grant applications is 1st June 2018. To find out more about the criteria, conditions for funding and how to apply, please click here.

ICNMD Drug Development Teaching Course
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TREAT-NMD Advisory Committee for Therapeutics (TACT) will be hosting a workshop on 'understanding the drug development process for neuromuscular diseases' at the upcoming ICNMD conference in Vienna. The workshop takes place on Friday 6th July at the Hilton, Vienna. The course agenda has been announced and you can find full details below:

Track: Muscle Introduction - Volker Straub (UK)

Session 1: Drug design Moderator: Kanneboyina Nagaraju (USA)

Requirements and pitfalls for small molecules - Mike Kelly (USA)

Requirements and pitfalls for gene therapy - Isabelle Richard (France)

Requirements and pitfalls for stem cells - Giulio Cossu (UK)

Session 2: Preclinical efficacy data Moderator: Raffaella Willmann (Switzerland)

Preclinical trial design - Annamaria De Luca (Italy)

Statistical power evaluation - Heather Gordish-Dressman (USA)

Data interpretation, translational meaning - Annamaria De Luca (Italy)

Session 3: Clinical trial design Moderator: Volker Straub (UK)

Regulatory requirements - TBC

Clinical trial readiness - Kathryn Wagner (USA)

Care aspects in clinical trial planning - Anna Mayhew (UK)

Patient perspective - Elizabeth Vroom (Netherlands)

Business model - Cristina Csimma (USA)

Plenary session: The TACT procedure by means of a mock TACT application


The workshop organising committee comprises of Volker Straub, Kanneboyina Nagaraju, Raffaella Willmann, Elizabeth Vroom and Kathryn Wagner. Kanneboyina describes the course as a "Drug development 101 for basic scientists and clinicians in neuromuscular diseases".

Participants will have the unique opportunity of participating in a mock TACT review to gain further understating of the TACT process.  Places are limited so early registration is essential, you can register here.

Share 4 Rare
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Share4Rare is funded by the European Union’s Horizon 2020 research and innovation programme. Based on a socially innovative approach, and building on citizen science and collective intelligence, the project engages and connects all relevant stakeholders towards building a platform to improve quality of life, disease management and collection of scientific knowledge and data on rare diseases.

As coordinators of the Neuromuscular ERN (EURO-NMD), staff at the John Walton Muscular Dystrophy Research Centre in Newcastle are coordinating one of the pilots to produce a series of questionnaires for patients and carers together with a repository of information related to rare neuromuscular diseases for the Share4Rare platform.

The Share4Rare project successfully hosted a co-creation workshop on Friday 18th May at MDA Hallas in Athens, Greece. The workshop was attended by patients and patient advocates representing several rare neuromuscular diseases. Valuable feedback was received on the accuracy and readability of the content produced by the team at Newcastle, and patients and patient advocates will continue to be involved in the project and to provide feedback as the materials are developed.

You can find more information on the Share4Rare project on their Facebook and Twitter pages or you can contact Avril Palmeri.

Duchenne Care Conference - Save the date!
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Duchenne Parent Project Netherlands (DPP NL) are pleased to announce that their upcoming Duchenne Care Conference will take place on 7th September 2018, in Amsterdam, Netherlands. In early 2018 an update on the International Care Considerations was published in the Lancet (Neurology). DPP NL welcomes clinicians and other healthcare professionals to attend this conference, which will present the most relevant topics of the updated care considerations, followed by discussions on the implementation of the Standards of Care. The full conference programme will be announced on the DPP NL website in due course. Confirmed speakers include:

  • Prof Eugenio Mercuri, pediatric neurology (Rome, IT)
  • Dr Jarod Wong, endocrinology (Glasgow, UK)
  • Prof Jonathan Finder, pulmonology (Pittsburgh, US)
  • Dr Imelda de Groot, rehabilitation (Nijmegen, NL)
  • Dr Jos Hendriksen, neuropsychology (Heeze/Maastricht, NL)
  • Dr Erik Niks, pediatric neurology  (Leiden, NL)
  • Dr Linda Cripe, pediatric cardiology (Colombus, US)
  • Dr Anne Connolly, pediatric neurology (St Louis, US) tbc
  • Marleen van den Hauwe, psychical therapy (Leuven, BE).

For more information and to register, please click here.

DMD Hub website launch
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Duchenne UK, along with the DMD Hub team at the John Walton Muscular Dystrophy Research Centre are pleased to announce the launch of the DMD Hub website (dmdhub.org), the go-to website for clinical trial information for Duchenne Muscular Dystrophy (DMD) in the UK.

The website aims to be a key resource for industry, clinicians and patients and has different sections specifically tailored for patients, Hub Sites and industry.

Uniquely it hosts a bespoke CLINICAL TRIAL FINDER that brings together trustworthy and up-to-date information on all current and planned DMD trials in the UK. Every trial has information on inclusion and exclusion criteria, outcome measures and an easy to understand lay summary. Search filters help find trials that are relevant to patients’ specific inclusion/exclusion criteria and factsheets for each trial can be downloaded. The information on individual trials has been created by working with the DMD Hub sites and industry collaborators and is verified by Duchenne UK and the Hub management team.

In the near future the website will include a Toolkit containing training and educational material for sites and act as a one-stop shop for industry/sponsors interested in conducting trials in the UK.

For more information, click here.

Research Update - Nutrition in SMA
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A Clinical Research article, recently published in the Journal 'Neuromuscular Disorders' looked at 21 patients with SMA, and investigated their nutritional status.

The outcome of their investigation highlighted that patients with SMA may be at risk for suboptimal macronutrient and micronutrient intakes, altered metabolic state, and alterations in body composition, particularly low lean mass and BMD.

An individualized nutrition approach that is guided by measured energy expenditure and serial measurement of body composition may help optimize energy and micronutrient intake for SMA patients, which could potentially improve their clinical outcomes.

The full article can be found here.

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22nd International SMA Researcher Meeting

14-16 June 2018

Dallas, USA

The Cure SMA researcher meeting will bring together leading SMA researchers, clinicians, and families living with SMA. Cure SMA has hosted the Annual SMA Conference since 1988. Conference organisers aim to reunite the SMA community at this year’s conference, in order to lend each other support and strength and to learn about the latest advances in research and care.

The Family and Researcher Conferences will run alongside each other. Through the conferences, Cure SMA brings together researchers, healthcare professionals, and families to network, learn, and collaborate. The meeting will include a wide variety of workshops, keynote sessions with leading researchers, a family-friendly research poster session, and family friendly events and teen and adult social activities. There are also many opportunities to connect and interact with other SMA families and to receive first hand updates from the researchers.

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

The European Human Genetics Conference

16-19 June 2018

Milan, Italy

The European Human Genetics Conference will showcase the latest findings in the field of human genetics, both basic and applied. The conference is held in conjunction with the European Meeting on the Psychosocial Aspects of Genetics, emphasising the multidisciplinary and international remit of the Society.

For more information about this event and to register, please click here.

World Conference on Neurology and Psychiatry 2018

18-19 June 2018

Tokyo, Japan

The organisers of the World Congress on Neurology and Psychiatry, invite participants from all over the world to attend their congress in Tokyo, Japan.
Neurology Congress 2018 will be operated by experts in the fields of neurology and psychiatry. International symposiums, B2B meetings, workshops will discuss specific topics in the field of Neurology like neuroGenesis, neurophysiology, neurological disorders, neuromuscular Disorders, neuro infectious diseases, neuropathology, and neuroplasticity.

The Neurology Congress 2018 will bring together experts like neuroscientists, clinicians, neurogeneticist, neurologists, psychiatrists, medical practitioners, care specialists, academic professionals and students from all over the world to share an interest in the genetic pathways underlying neurological disorders, techniques to identify those genetic pathways, and the use of genetics and genomics as tools to develop therapeutics. The aim of the conference is to provide a platform to academics and practitioners from multiple disciplines to debate and deliberate on social change that is encompassed by innovation and technology.

For more information and to register, please click here.

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24th May 2018
TREAT-NMD newsletter - 24th May 2018
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