30th October 2015
Only a few places left at our first US conference - book now!

There are only a few places left for our first ever conference in the US!

Taking place in the historic Cosmos Club which is located in the DuPont Circle region of Washington DC the conference begins 6 December concluding on 8 December.

Entitled 'Growing the drug pipeline for neuromuscular diseases: optimising resources for clinical development of new therapies' the conference will bring together key stakeholders from the neuromuscular community.

Highlights of the conference include:

6 December

The first session chaired by John Porter will set the stage for the overall TREAT-NMD conference by providing recommendations for active participation of patients and caregivers in drug development. This will be followed by a session exploring the challenges of study design and animal model limitations.

7 December

The second day begins by focusing on the accelerating pace of clinical development for rare neuromuscular diseases and the unique sets of challenges and opportunities for all stakeholders. A variety of sessions chaired by clinicians, patient organisation and industry representatives will explore trial design, outcome measures, imaging and concluding with standards of care.

8 December

Patient registries have proven to be instrumental for clinical research in neuromuscular disorders. The morning session chaired by Hanns Lochmüller and Hugh Dawkins will set out the global picture. The conference will finish by exploring international trial readiness, and present the importance of ensuring resources are efficiently utilized to bring the most effective drugs and to market to the most patients.

Register here

Article about Duchene muscular dystrophy health related quality
of life study is published
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Despite its central role in palliative Duchenne muscular dystrophy (DMD) care, large series of health-related quality of life (HRQOL) data in DMD are lacking. Information is usually restricted to one clinic or country, and is further limited then by small sample sizes or inadequate stratification across age groups.

The objective of this study was to estimate HRQOL in patients with DMD at different stages of disease progression.

The study was a cross-sectional, observational study of patients with DMD from Germany, Italy, the UK, and the USA identified through national DMD registries that form part of the global DMD registries. Patients were required to have confirmed genetic diagnosis of DMD and be at least 5 years old.

An article, which documents the study and its findings, was published online in Developmental Medicine & Child Neurology and can be found here.

Development and psychometric analysis of the DMD Functional
Ability Self-Assessment Tool
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The results of a study into a self assessment tool for Duchenne muscular dystrophy (DMD) have been published.

The objective of the study was to describe the development and initial psychometric analysis of the UK English version of the DMD Functional Ability Self-Assessment Tool (DMDSAT), a patient-reported outcome (PRO) scale designed to measure functional ability in patients with DMD. The administered version included eight items in four domains: Arm function, Mobility, Transfers, and Ventilation status. These items together successfully operationalized functional ability in DMD, with excellent targeting and reliability. The study showed that the DMDSAT is a PRO instrument fit for purpose to measure functional ability in ambulant and non-ambulant patients with DMD.

More information on the paper is available here

European Medicines Agency launches patient registries initiative
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The European Medicines Agency (EMA) has launched an initiative on patient registries aimed at making better use of existing registries as a source of high-quality post-authorisation data for regulatory decision-making, and to facilitate the establishment of new registries if needed.

This initiative aims to support use of existing registries to collect information on medicines in clinical use and support benefit-risk evaluation. It will also explore ways of dealing with current challenges faced by companies and regulators in using these registries and establishing new registries if needed.

Supported by a cross-committee task force the initiative includes two components: a strategy on registries and a pilot phase.

The strategy involves a planned collaborative approach to facilitating the interactions between coordinators of registries, regulators and pharmaceutical companies who need high-quality data on medicines in clinical use. Where needed, methodological components of newly established registries will be identified to ensure high quality and relevant data are collected.

The pilot phase aims to test whether the strategy meets regulators' and other stakeholders' needs for data and information on the basis of real-life examples. Participation in the pilot phase will be determined on a case-by-case basis by the cross-committee task force on registries. The pilot phase is anticipated to last for two years.

European Medicines Agency launches public consultation on
new PRIME scheme
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The European Medicines Agency (EMA) has launched a public consultation on the key principles of its new PRIME scheme. PRIME aims to strengthen support to medicines that have the potential for benefit patients who presently have no treatment options, or that may offer a major therapeutic advantage over existing treatments. These are considered priority medicines by EMA, hence the name of the scheme.

Through the scheme EMA will offer early and enhanced scientific and regulatory support to medicine developers to optimise the generation of robust data and enable accelerated assessment. This will allow patients to benefit from therapies that may significantly improve their quality of life as early as possible.

PRIME builds on existing regulatory tools, particularly scientific advice and the accelerated assessment procedure which is used for medicines of major interest from a public health and therapeutic innovation perspective.

Find out more about the scheme and the consultation process.

Neuromuscular ERN update
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The European Commission has published the video clips and Powerpoint presentations from the Second Conference on European Reference Networks (ERNs) which took place earlier this month in Lisbon, Portugal (8-9 October 2015). These presentations provide valuable information on topics such as the added-value of a networking approach for rare disease stakeholders, the benefits of grouping diseases thematically, and the potential for ERNs to support the generation of clinical guidelines and conduct research.

The Neuromuscular field was very well represented at this important event: Kate Bushby and Teresinha Evangelista were amongst the key Experts invited to share their rare disease networking experiences, and they used the opportunity of having many NMD colleagues together in one place to organise an informal strategy meeting, to progress with the plans for responding to the first Call (now less than 6 months away). Overall, the conference provided some important practical guidance on the application and assessment process for ERNs, which the NMD consortium is using to define the scope and services of an ERN for Rare Neuromuscular Diseases.

Duchene research overview 2015 Chinese translation now available
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We are delighted to let you know that the recently updated TREAT-NMD research overview section for DMD which reflects the very latest information has now been translated into both traditional and simplified Chinese. The inclusion of these translations now mean that the overview is available in English, Spanish and Chinese.

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 based on information presented at the Duchenne Parent Project Onlus meeting (Feb 2015, Rome, Italy) and the Duchenne Connect meeting (June 2015, Washington DC, US).

Financial support to Dr Aartsma-Rus by Duchenne Parent Project Onlus to attend the Duchenne Parent Project meeting in Rome and by the Duchenne Parent Project Netherlands to attend the Duchenne Connect meeting in Washington is gratefully acknowledged.

Myology 2016 - early bird registration open
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Early bird registration is now open for the 5th International Congress of Myology. The best specialists from around the world will gather at the congress which is scheduled between 14-18 March 2016 in Lyon, France to present and challenge their latest findings not only in fundamental research but also in clinical science and therapeutics.

The early bird booking fees are in effect until 31 Jan 2016 so we recommend booking now to take advantage of the discount.

Further details about the programme along with important dates to remember are available on the Myology 2016 website.

AFM announces first international for myotonic dystrophy projects
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AFM - Téléthon has announced its first international call for proposals for strategic and translational research projects in myotonic dystrophy.

The call aims to promote collaborative and translational research activity in the field of myotonic dystrophy and help the dedicated international scientific and medical community in its search for innovative therapies. Proposals may address the development of new therapeutic approaches for myotonic dystrophy.

Projects with the greatest potential to enable rapid translation from preclinical proof of concept to clinical trial with a realistic and well defined development strategy will be favoured.

Application deadline for pre-proposals is 18 December 2015.

Accelerating research towards the development of treatments
for nemaline myopathy
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Launch of an international grant call

A group of international experts from three continents, specialising in multiple aspects of nemaline myopathy (NM), met at Muscular Dystrophy UK London to review the field of NM research. The aim of the meeting was to identify strategic areas of research towards the development of treatments in preparation of an international grant call that the charity is launching at the beginning of November 2015.  

The meeting focused on areas that would have the most impact on people affected by the conditions with the ultimate goal of successful prevention and treatment.

The participants established that the following four strategic research areas are the most worthy and important for the NM field as it currently stands:

- Establishment of international clinical/genetic databases for all forms of NM
- Improved diagnostics, including better understanding the consequences of sequence variants for NEB NM
- Determining the pathogenesis of NEB NM
- Investigations into therapeutic approaches for NEB NM

Muscular Dystrophy UK will be launching the international grant call for researchers working in one or more of the above areas in order to drive forward the development of treatments. To find out more about the details of the call please contact Dr Alison Stevenson or telephone +44 207 8034812.

Exciting opportunity for clinical scientist
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An exciting opportunity has arisen for a highly motivated scientist to join our team providing a specialist technical service for the diagnosis of Limb-Girdle Muscular Dystrophies (LGMDs). The Muscle Immunoanalysis Unit (MIU) is the UK national referral centre for the diagnosis of LGMDs where immunohistochemistry and western blotting techniques are used to help identify which gene is at fault. The MIU works closely with the diagnostic molecular genetics unit and clinicians at the Institute of Genetic Medicine, Newcastle upon Tyne. The unit supports an active R&D programme. The successful candidate will have specialist experience of muscle pathology and associated diagnostic techniques.

UK candidates should be state registered with the Health Professions Council or last year trainees. Equivalent qualifications for overseas candidates can be used to support an application for state registration.

If you would like to find out more about this post, when you will be able to apply and how to get an information pack, please get in touch with Dr Richard Charlton or telephone +44 (0)191 282 0849.

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30th October 2015
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