26th June 2015
Time to get involved in World Duchenne Awareness Day 2015

The second World Duchenne Awareness Day will take place on Monday 7 September this year, so it is perfect timing for getting involved.

The Duchenne Awareness Day website is already highlighting the day and raising awareness by sharing stories from those affected by Duchenne muscular dystrophy (DMD). Because the DMD gene has 79 exons, each day for 79 days running up to the day itself a new photo blog will be added to the site. The blogs will highlight the voices, hopes, aspirations and realities about living with Duchenne.

You can help support the day by buying virtual balloons that will be released on the 7 September to commemorate the day. Better still, why not become a balloon seller and really try to swell the numbers?

Either way, please make sure you check out the site, tell the world about it, and buy (or sell) balloons to support this brilliant initiative!

Limb Girdle Muscular Dystrophy Awareness Day
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The first worldwide celebration of Limb Girdle Muscular Dystrophy (LGMD) Awareness Day will take place on 30 September 2015.  This Awareness Day is a collaborative effort to raise awareness of this group of rare neuromuscular diseases.

All patients, family members, organizations, health care professionals, researchers, drug developers, public health organizations and any association with an interest in LGMD are invited to join together and become an “Ambassador” of Limb Girdle Muscular Dystrophy Awareness Day.

The Limb Girdle Muscular Dystrophy Awareness Day team has developed some information to help you plan and implement your Limb Girdle Muscular Dystrophy Awareness Day efforts.

Go to www.lgmd-info.org for further information about the day and how to get involved!

Prevalence and Impact of Genetic Muscle Disorders Study
underway in New Zealand
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A study to identify all people living with genetic muscle disorders in New Zealand has just begun. Led by Dr Alice Theadom from Auckland University of Technology, the study aims to:

• Determine how many living people in the country are affected by these conditions
• Assess the impact on daily lives for those affected and for those close to them
• Assess the direct and indirect costs associated with genetic muscle disorders and
• Explore health care service delivery and areas of unmet need

Genetic muscle disorders included are; Duchenne muscular dystrophy, Becker muscular dystrophy, Emery Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, myotonic muscular dystrophy, oculopharyngeal muscular dystrophy, distal muscular dystrophy, congenital muscular dystrophy, myotonia congenita, paramyotonia congenita, central core disease, nemaline myopathy, myotubular myopathy, GNE myopathy, periodic paralysis, Pompe’s disease and hyperCKemia.

The study will include people of all ages and will identify cases using a number of different approaches. Those eligible will be offered the opportunity to take part in an assessment of the impact of their condition and to nominate a significant other to also take part in the study to explore the impact on them. Assessments will be completed in-person at the person’s home or other preferred location, online and/or over the phone.

It is hoped this study will help to provide accurate prevalence estimates and to inform health care service delivery both in New Zealand and internationally.

The study is funded by the Health Research Council of New Zealand, in partnership with the Muscular Dystrophy Association of New Zealand and the New Zealand Neuromuscular Disease Registry.

For more information please email: mdprev@aut.ac.nz

TREAT-NMD Translational Sciences Conference
registration underway!
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Registration for the upcoming TREAT-NMD Conference in December is now well and truly underway!

With the orphan drug development in neuromuscular disease 'heating up' there is a lot to catch up on. As with previous TREAT-NMD conferences this one is designed with ample time for informal interactions with the speakers and colleagues. This is the first TREAT-NMD Conference to be held in the US - a testament to the increasingly global scope and impact of the network's efforts.

The conference and satellite meetings will take place 4-8 December at the historic Cosmos Club in the DuPont Circle region of Washington DC – the area known for its many embassies, restaurants and landmarks.

Please be aware the number of conference participants is strictly limited to 200 so register as early as possible to secure your place.

Register for the conference.

Spanish DMD patient registry launches
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We are delighted to announce that the Spanish DMD Patient Registry was launched earlier this month.

The Spanish DMD Patient Registry is a database of patients diagnosed with Duchenne/Becker Muscular Dystrophyand female carriers who live in Spain. The registry was set up and is led by Duchenne Parent Project Spain (DPPE). The registry aims to help clinicians, researchers and pharmaceutical companies to develop new clinical trials for Duchenne/Becker Muscular Dystrophy, to identify patients living in Spain and to enable fast and efficient recruitment of patients who can benefit from new clinical trials.
The information collected through the registry is hoped to allow to learn more about these genetic diseases and their impact on patients and their families. Having this information is crucial in the process of developing new treatments for Duchenne/Becker Muscular Dystrophy.

The Spanish DMD Patient Registry is now one of over forty national DMD patient registries that contribute to the TREAT-NMD Global Registry for DMD.

Find out more about the Spanish DMD Patient Registry.

TACT call for proposals
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The 12th TACT review meeting will take place between 5-6 December 2015 in Washington DC, USA.

As time is getting short those wishing to submit a proposal to this meeting should contact the TACT secretariat via Kim Down as soon as possible.

Please visit the TACT section of our website for more details of the application process.

MYO-MRI Short Term Scientific Missions – Year 2
call for applications
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The COST Action funded MYO-MRI project has launched its year two call for applications for Short Term Scientific Missions (STSMs). As in the previous year, MYO-MRI will again fund four STSMs.

STSMS are a fundamental part of MYO-MRI and give early stage researchers the opportunity to undertake research in another country for five to ninety days. There is a grant of up to €1500 available to cover travel and accommodation.

Read the reports from STSMs undertaken in year 1.

Find out more about how you can apply to undertake an STSM.

Further details on the MYO-MRI project itself can be found on the project website.

For additional questions please contact Olav Veldhuizen.

Abstract submission deadline draws close for
Jain Foundation's 7th Dysferlin Conference
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The Jain Foundation's Seventh Dysferlin Conference will be held 4-7 November 2015 in Toronto, Canada.

This is the only meeting of its kind that focuses specifically on dysferlin and the related diseases caused by mutations in dysferlin. The Dysferlin Conference included presentations from leading international scientists on the most up to date information (mostly unpublished) on the state of dysferlin research, significant time for discussions and collaborations, as well as poster sessions.

Deadline for abstract submission is Tuesday 30 June.

Further information about the conference itself, how to register and also submit your abstract can be found on the Jain Foundation website.

Next assessment round for ENMC workshop applications
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ENMC workshop applications can be submitted the whole year through. The deadline for sending in applications for ENMC workshops to be conducted in the first half of 2016, is 15 September 2015.  The forms to be completed for a workshop application can be downloaded from the ENMC website.

Incomplete applications and applications submitted after the deadline, will not be processed.

If you have any questions regarding this, please do not hesitate to contact the ENMC office.

Submission deadline 15 September 2015

If you want the Research Manager and the Director to preview your application to ensure it is fully complete and accurate before it is finally submitted, please submit your 'pre-application' anytime before 1 September 2015

PPMD meeting report
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The 21st PPMD conference took place 18-21 June in Washington D.C. and was themed “we see strength when we connect”.

The meeting attracted many patients and parents along with representatives from industry and research. Among the meeting highlights was the announcement that the FDA have now released the draft guidance on developing drugs for DMD which PPMD had submitted guidelines for last year. This has been an eagerly anticipated document that has been widely welcomed by the DMD community.

For those who were not able to attend the conference the information about all the various conference sessions can be found on the PPMD website.

MYO-MRI Partner Meeting - Malaga, Spain, 7-8 May
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The MYO-MRI COST Action held its 3rd Partner Meeting in Malaga, Spain on the 7-8 May. More than 50 researchers from Europe as well as from the US, Chile and Russia attended.

The MYO-MRI project is working to overcome the main hurdles to rollout of MRI techniques by sharing expertise and data, validating protocols across platforms and exploring the potential of MRI and MRS as a helpful diagnostic tool and a quantitative outcome measure in clinical trials in neuromuscular diseases. The project is now in its second year and is successfully building on the work started in the first year. Many of the participants are early stage researchers, and most participants have attended previous meetings.

The project is made up of four working groups, namely: The use of muscle MRI for diagnostic purposes (WG1), The application of muscle MRI and MRS as a multi-centric outcome measures (WG2), Exploring new contrasts, targets and imaging techniques for NMD (WG3) and Strategies for muscle imaging texture analysis (WG4). Working Groups 1 and 4 met separately on the first day of the meeting, whilst Working Groups 2 and 3 held a joint meeting.

The second day saw a joint Working Group Meeting, as well as lectures from the MYO-MRI Chair Volker Straub (Newcastle University) on “Current treatment strategies in muscle disease”, from Richard Lerski (Dundee University) on “Quality assessment in MR image acquisition and processing” and from David Gomez Andrés (Universidad Autónoma de Madrid) on “Heatmaps for graphical representation and analysis of signal and atrophy scoring in different myopathies (LMNA vs SEPN1)”.

The next meeting will be held at the John Walton Muscular Dystrophy Research Centre at Newcastle University, in Newcastle (UK) on 5-6 October 2015.

2015 Annual Cure SMA Conference - a report from Kansas
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The 2015 Annual SMA Conference took place in Kansas City, MO, USA at the Westin Crown Center between June 18 and 21 2015.

Every year, Cure SMA sponsors a conference to bring together the leading SMA researchers, clinicians, and families living with SMA. Cure SMA has been hosting the Annual SMA Conference since 1989. The aim of the conference is to get the community together and to learn about the latest advances in research and care.

This year, as it was in previous years, the Family and the Researcher Conferences ran alongside each other. Through the conference the researchers, healthcare professionals, and families were brought together to network, learn, and collaborate. The Annual SMA Conference is the largest conference for those affected by SMA, and also for those involved in providing support and care for SMA patients.

The weekend was filled with a wide variety of workshops, keynote sessions with leading researchers, a family-friendly research poster session, and a number of fun events.

Find out more about how successful the conference was on the Cure SMA website or on twitter using #SMAconference.

Key FSHD stakeholders gather for second trial readiness workshop
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The second Facioscapulohumeral Dystrophy (FSHD) Trial Preparedness Workshop recently took place at the University of Rochester Medical Center in Rochester, New York 29-30 May 2015. More than 50 key stakeholders from around the world, including representatives from industry, the Food and Drug Administration, National Institutes of Health, and patient advocacy groups, including the FSH Society attended the workshop.

“For this year’s workshop, the first objective was to reassess where we are in the process of developing relevant clinical outcome measures, biomarkers and surrogate outcome measures for future FSHD trials,” said workshop organizer Rabi Tawil, MD, of the University of Rochester. "The second goal was to reach agreement on the most promising outcome measures to be pursued and identify gaps that remain. Finally, we hope to have fostered collaborations among investigators at different institutions to help accelerate the pace of research to fill those gaps."

Over the past three years, a scientific consensus has emerged around the central genetic mechanism of FSHD. While many details about the disease process remain to be solved, several labs in both academia and industry have begun to search for potential therapies. In addition, financial incentives to encourage drug development for orphan diseases, combined with advances in tools to track disease progression, have wakened industry interest in FSHD.

The workshop was funded by the FSH Society, FSHD Stichting from the Netherlands and FSHD Global Research Foundation from Australia.

Find out more about Facioscapulohumeral Dystrophy by visiting the FSHD section of our website.

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26th June 2015
TREAT-NMD newsletter - 26th June 2015