26th February 2016
Two TREAT-NMD resources achieve IRDRiC recommended status

The International Rare Disease Research Consortium (IRDiRC) Recommended

We are delighted to announce that the TREAT-NMD Standard operating procedure (SOPs) for preclinical efficacy studies and TREAT-NMD Patient Registries have been successfully approved and accepted for the "IRDiRC Recommended" label.

One of IRDiRC's key initiatives is the creation of a label to highlight key resources which have the potential to accelerate the pace of discoveries and translation into clinical services. Platforms/tools/standards/guidelines which are "IRDiRC Recommended" must be of fundamental importance to the international rare diseases research and development community. “IRDiRC Recommended” is a quality indicator based on a specific set of criteria.

For further information on the label please visit the IRDiRC Website.

Time to get involved with Rare Disease Day 2016
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The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. This year's event is expected to be the largest to date and will take place on the rare date of Monday the 29th of February.

More information about events happening where you are and how you can get involved in them, or indeed, how to organize your own event can be found on the Rare Disease Day website.

Disappointing Tadalafil Trial Results for DMD
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A Phase 3 study to determine if tadalafil can slow the decline in walking ability of boys who have Duchenne muscular dystrophy (DMD) has revealed disappointing results. Unfortunately, initial reviews of data showed no evidence of tadalafil efficacy during the placebo-controlled trial, which involved over 300 DMD patients.

No decrease in 6 Minute Walk Distance decline was seen in those treated with tadalafil for 48 weeks, whilst secondary assessments of motor function and subgroup analyses of boys with differing disease severity also showed no evidence of efficacy.  As such, a decision was made to stop the open-label extension phase of the trial. This decision was made in the best interest of the patients involved and their families following consultation with DMD research experts.

Lilly, the company behind the trial, will work with DMD patient advocacy groups to communicate the full results of the study and offer patient families the opportunity to ask questions. They hope the new data from the study can be used to advance the understanding of DMD and inform future research.

A paper including the full study results will be submitted for publication. The full statement from Lilly can be read here.

Findacure publishes new book to help patient organizations
develop treatments for rare diseases
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A newly published book by the UK charity Findacure aims to empower patient groups and help the rare disease community to drive research and develop treatments. "The Patient Group Handbook: A Practical Guide for Research and Drug Development" brings together 50 world experts and covers a range of topics from setting up a patient group and engaging with industry to more formal aspects, such as orphan drug legislation. One of some 25 chapters, 'How to build an international research consortium' features extensive information on the experiences and challenges of building TREAT-NMD, written by those involved.

The book is aimed primarily at patient organizations and academia, but could be useful for anyone involved in drug development, particularly those working on orphan drugs for rare diseases. “When I wanted to find a treatment to help my boys, both of whom have a rare genetic disease called alkaptonuria, or black bone disease, I didn’t know the first thing about drug development. This book would have been invaluable to me then and I hope it will help others who are in my situation now.” said Dr Nick Sireau, Co-Editor and Founder of Findacure. 'The Patient Group Handbook' is available now in both print and a colourful Kindle edition, with all proceeds going to charity.

American Academy of Neurology updates guideline
corticosteroid for DMD
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The 2005 American Academy of Neurology (AAN) guideline on corticosteroid treatment of Duchenne muscular dystrophy (DMD) has been updated following a systematic review of 34 studies published between 2004 and 2014. The original 2005 guideline recommended the use of certain corticosteroids in DMD in order to produce short-term benefits in muscle strength and function. The recent review by Gloss et al attempts to answer questions such as the effects of corticosteroids on survival and quality of life as well as establish the potential side effects of these treatments.

The authors use the evidence revealed by their systematic review as the basis for the updated recommendations on corticosteroid use in DMD seen in the AAN guideline. The article, published in Neurology at the beginning of February, provides a concise view of the evidence for corticosteroid treatment in DMD and summarizes extensive information provided in the complete AAN guideline (available as a data supplement on the Neurology Web site).

EMA Academia Consultation Questionnaire
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The European Medicines Agency(EMA) is inviting academics to complete a brief consultation questionnaire in the hopes of establishing greater collaboration between academia, industry and regulators. This consultation process aims to identify new ways to support academia and channel the advanced knowledge of academics into the regulatory environment.

The 12 question questionnaire, which also asks for comments and suggestions, should take 10-15 minutes to complete and can be found and completed online here.

A short background paper providing an overview of the EMA’s aims for the academia consultation process can be found here.

The deadline for completing the online questionnaire is 15 April 2016.

Article on Thematic Grouping of Rare Disease for ERN's
now available
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A new paper around the thematic grouping of Rare diseases in the context of ERN's has been published in the Oprhanet Journal of Rare Diseases. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks was written by authors Teresinha Evangelista, Victoria Hedley, Antonio Atalaia, Matt Johnson, Stephen Lynn, Yann Le Cam and Kate Bushby.

In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care across Europe. The right to equity in the access to care was established by the directive of the European Parliament and of the Council on the application of patients' rights in cross-border healthcare. The particular situation for Rare Diseases whereby sharing of expertise can be regarded as especially valuable, as well as the work that is already in place in the networking of Rare Diseases experts means that Rare Diseases are considered excellent models for the development of European Reference Networks.

In this paper the authors, partners of EUCERD Joint Action, address some of the questions that surround the establishment of European Reference Networks. We will focus on how Rare Diseases could be efficiently grouped in order to constitute European Reference Networks and how they might be structured to allow each and every disease to benefit from networking.

The full article can be found here (Orphanet Journal of Rare Diseases 2016 11:17)

New Dutch FSHD Registry
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The Dutch FSHD registry was launched in March 2015 and is run by the Dept. of Neurology, Radboud University Nijmegen Medical Centre in collaboration with the Dutch Association for FSHD and Spierziekten Nederland, the Dutch Association of Neuromuscular Disorders.

This collaboration between patients and researchers will increase knowledge of FSHD with the ultimate goal to treat symptoms and improve quality of life. The website informs (future) participants about the registry goals, to whom the registry is open, how to register, how many are registered at the moment and where to go with questions regarding the registry.

We aim to extend the registry in the future with a feedback function enabling participants to make use of the data they provided, integrated with data based on the whole registry population or specific subgroups.

Latest version of DMD research overview now available in Dutch
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The TREAT-NMD research overview section for DMD which reflects the very latest information is now available also in Dutch taking the total number of languages this is now available in to five.

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.

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.

DMD online guide now includes Russian and Bulgarian translations
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We are delighted to announce that the online DMD Family Guide is now available in Russian and Bulgarian taking the total number of languages to ten.

This online version of the family guide has been specifically designed to be accessed on desktops, tablets and smartphones alike. The guide provides the same content as printed versions  and has been developed by Professor Jan Kirschner and his team in Freiburg.

We are still seeking volunteer translators for the following languages:

Arabic, Czech, Danish, Farsi, Finnish, French (Canada), Hebrew, Hungarian, Japanese, Kyrgyz, Latvian, Lithuanian, Norwegian, Polish, Portuguese, Romanian, Serbian, Slovak, Slovenian, Swedish, Tamil, Ukrainian and Vietnamese.

Please get in touch if you are able to help.

Stakeholder Workshop “Making Outcomes Work” – Save the date!
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Following on from the successful exon skipping therapy development for DMD meeting held in London in April 2015, we are delighted to announce a follow-up stakeholder workshop which is planned to be held at the British Library in London on the 26 May 2016.

The follow-up workshop will be organised by SCOPE-DMD and BIOIMAGE-NMD, two FP7 funded projects coordinated by Newcastle University. The aim of the workshop is to discuss how the field has furthered ongoing activities on outcome measure development, focusing in particular on MRI, upper limb function and molecular biomarkers.

Further details of the programme and speakers and how to register will be announced in upcoming newsletters, on the SCOPE-DMD, BIOIMAGE-NMD and TREAT-NMD websites and also via twitter @TREAT_NMD. Alternatively, you could contact Olav Veldhuizen.

We look forward to seeing you in May!

Registration open for European Muscle Conference 2016
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Registration is now open for the 45th European Muscle Conference in the historic city of Montpellier, France. The conference will run from Friday the 2nd to Tuesday the 6th of September at the University of Montpellier’s Medical and Law Schools.

The conference will cover all aspects of muscle research from basic to applied sciences, offering an ideal forum for scientific exchange among specialists from different disciplines and backgrounds. Main topics covered will range from the epigenetics of muscle regeneration to cardiomyopathy and heart failure, including a keynote lecture by Andrew Marks of Columbia University as well as social events to allow you to explore the city.

Deadline for the submission of abstracts is 31 May 2016 whilst the deadline for registration with a reduced fee is 1 June 2016.

Highlights of the Euro-Latin-American Summer School of Myology
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The 8th Euro-Latin-American Summer School in Myology (EVELAM) was successfully held in Lima, Peru, in December. Organized by Dr. Peggy Martinez, Dr. Daniel Koc, and Dr. Edwin Santamaria, the main aim of the meeting was to continue enhancing the knowledge on neuromuscular diseases in Latin America, as well as to give an update on selected topics in the field.

Held over 3 days, the course was aimed at health professionals with a special interest in neuromuscular diseases and included update lectures, case discussion workshops and round table exchanges. Diverse topics were discussed, ranging from imaging in muscular pathologies to the role of patient associations in Latin America. Especially invited were patient associations such as MDA Peru, ORITEL, INR México and AFM France. Their presentations of current projects, achievements and future visions were invaluable to the Summer School.

EVELAM provides an opportunity for knowledge and training to be exchanged between Latin America and Europe to advance the care, diagnosis, and treatment of patients with neuromuscular diseases. This year 160 participants from Brazil, Chile, Mexico, Colombia, Peru, and Argentina attended the meeting, with guest speakers coming from Europe, North America, Brazil and Uruguay.

The 9th EVELAM Summer School is scheduled for early December 2016 in Uruguay.

Current opportunities
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Associate Professor Position:

The Department of Stem Cells, Tissue Engineering and Modelling at the University of Nottingham is currently recruiting for an Associate Professor (Senior Lecturer) position in Translational Stem Cell Technology. The full-time, permanent role will be based within the flagship Centre for Biomolecular Sciences. The successful research-active applicant will bring their own established area of research to the department and develop it further in Nottingham, whilst also delivering selected lectures, tutorial and practicals. The closing date for applications is the 2nd of March 2016.


PhD Studentship:

The University of Portsmouth's School of Pharmacy and Biomedical Sciences is currently offering a fully-funded PhD studentship investigating 'The secondary abnormalities of DMD gene mutations'. The project aims to establish how DMD gene mutations may cause a variety of abnormalities in a number of functionally discordant cell types and will involve the use of a broad range of techniques. The closing date for applications is the 3rd of April 2016.


MYO-MRI Training School June 2016 open for applications:

The 2nd MYO-MRI training school will take place in Paris from the 15th to 17th of June, with early stage researchers in particular encouraged to apply. The 3-day course will give an in-depth introduction to the MYO-MRI project, 'Applications of MR Imaging and spectroscopy techniques in neuromuscular disease', which aims to overcome the hurdles to rollout MR techniques. Only 24 places are available, with the deadline for completion of the application form March 18th 2016.


Call for MYO-MRI Short Term Scientific Missions (STSMs) applications:

STSMs allow early stage researchers an opportunity to undertake research in another country for 5-90 days and are a fundamental part of MYO-MRI. Up to €1500 is available via a grant to cover travel and accommodation. More information on STSMs and how to apply can be found here.

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26th February 2016
TREAT-NMD newsletter - 26th February 2016