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29th January 2016
TREAT-NMD seeks Work Plan Leads

TREAT-NMD has a 3 year work plan which is overseen by the executive committee, but also other TREAT-NMD members. We are making fantastic progress in some disease areas, however we need to improve our efforts in other areas. Some tasks are overarching for all NMDs, whilst others are disease specific and sometimes there is coordinated work ongoing in one disease that could help facilitate similar efforts in other diseases. To start this, we need volunteers! The blank squares visible on our grid represent areas where we do not currently have champions for that topic/disease combination.  The light blue squares indicate that work has been started, however more help would be appreciated. Dark blue squares show areas where work is advanced however we still would appreciate your input. Note that we welcome input from everyone - researchers (junior and established) but also patient representatives.

"TREAT-NMD has a dynamic workplan, that is updated regularly, reflecting the momentum of the NMD field. It is important that we all work together, and learn from each other. We are all TREAT-NMD. I hope I can count on all of you to keep moving this field forward."

European Medicines Agency adopts DMD guidelines
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The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has prepared and adopted a scientific guideline for the clinical investigation of medicines for the treatment of Duchenne and Becker muscular dystrophy.

The CHMP aims to provide marketing-authorisation applicants with general guidance for the development of any medicinal product for DMD and BMD. Recent advances in DMD and BMD research have highlighted potential therapeutic options for the future. Issues for research have also been identified, such as study design and duration. These challenges have been considered in the document.

The Guideline was adopted by CHMP on the 19th of December 2015 and will come into effect on the 1st of July.

The document can be read here.

Drisapesren fails to gain FDA approval
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Drisapersen, a proposed new treatment for Duchenne muscular dystrophy (DMD) is not yet ready for approval according to the FDA. BioMarin, who developed drisapersen, received a Complete Response letter in January; indicating the FDA felt it could not approve the drug in its current form given concerns over efficacy and safety following trials.

DMD is the most common fatal genetic disorder diagnosed in boys and represents a huge area of unmet clinical need, with no specific treatments currently approved by the FDA. The mutation underlying DMD affects the dystrophin gene, which affects the dystrophin protein involved in maintaining muscle cell membranes.

Drisapersen aims to restore dystrophin function in 13% of patients by inducing exon skipping. These patients’ DMD-causing mutations could potentially be counteracted by ‘skipping’ exon 51 in the dystrophin gene to restore the reading frame of the gene; increasing dystrophin production and resulting in clinical benefits.

Phase 2 trials and a larger Phase 3 study took place to compare the effect of the new treatment against a placebo. After reviewing these trials, the FDA felt evidence of the effectiveness of drisapersen was inconsistent and had concerns over the outcomes measured. Safety was also an issue, with kidney and skin toxicities just some of the major adverse effects seen during clinical trials.

However, exon skipping drugs may still make an impact on DMD treatment. In future, BioMarin will work with the FDA to continue the development of Drisapersen. Eteplirsen, another exon 51 skipping treatment developed by Sarepta Therapeutics, is currently under review by the FDA for use in DMD.

Latest publications available on the TREAT-NMD website
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The following publications are now available to download and are highlighted on our latest publications page on the website.

The importance of genetic diagnosis for Duchenne muscular dystrophy

"This review discusses different mutations causing DMD, diagnostic techniques available for making a geneticdiagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD Aartsma-Rus A, et al. J Med Genet 2016;0:1–7,


Recent developments in the management of Duchenne muscular dystrophy

"This review is based on the internationally agreed care recommendations for DMD and aims to provide some guidelines to paediatricians for the management of these patients."  Guglieri M, Bushby K. Paediatrics and Child Health, Volume 25, Issue 11, November 2015, Pages 505–514


GNEM-DMP newsletter - Available in 10 Languages
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The third edition of the International GNEM-DMP registry newsletter is now available to download in 10 different languages.

The newsletter is used as a way of informing patients and families, as well as doctors, about what is going on with the registry as well as containing updates from the study partner on anything else related to GNE myopathy.

The newsletter can now be downloaded from the TREAT-NMD website in Dutch, English, Farsi, French, German, Hebrew, Italian, Korean, Portuguese and Spanish.

For more information on the GNEM-DMP Registry, including how to participate, contact HIBM@treat-nmd.eu or visit the site.

DMD online care guide now available in new languages
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The online DMD Online Family Guide is now available in 8 languages (English(UK), English(US), Dutch, French, German, Greek, Italian and Spanish). A further 5 languages are in development (Russian, Bulgarian, Chinese simplified, Chinese traditional and Turkish) thanks to the efforts of translation volunteers.

We are still looking for volunteers to translate the guide into the following languages:

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

Please get in touch if you are able to help!

Updated TREAT-NMD Charter adopted
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In November 2015 we announced that Kevin Flanigan would become the new Vice Chair of the TREAT-NMD Executive Committee. He replaces Eric Hoffman who voluntarily stepped down as Vice Chair as he is taking a year leave of absence from his academic position to focus amongst others on the development of VBP15 with Reveragen.

The TREAT-NMD Charter did not specify whether individuals employed by industry can be Executive Committee members. The Executive Committee has now discussed this matter and has agreed that is acceptable to have individuals employed by industry as members of the Executive Committee; however, they are precluded from taking Chair or Vice Chair positions while being employed by industry. The Charter has been changed accordingly and was unanimously approved by the Executive Committee (new version dated 25th January 2016).

The TREAT-NMD Charter is available here.

Horizon 2020 - New funding calls
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Networking and optimising the use of population and patient cohorts at EU level (SC1-PM-04-2016) - Deadline 13th April. Proposals should aim at maximizing the exploitation of population cohorts by bringing together national and/or European cohorts with common scientific interests (e.g. across diseases, children, mothers, elderly, birth, gender, etc.), and by taking advantage of new technologies (e.g. ICT, social platforms, etc.) and new type of data (e.g. geographical, genetic, eHealth records, etc.) proposals should provide expanded resources and knowledge on health and disease determinants, onset and course of diseases (including aspects of co-morbidity and/or co-infections), clinical, public health and socio-economic research. Synergies with relevant existing European infrastructures and additional collaborations with relevant international initiatives are encouraged. Proposals should also engage with relevant international/national/regional authorities to ensure that findings are implemented and translated into health policy. Detailed information available here.

New Therapies for Rare Disease (SC1-PM-08-2017) - First round deadline Deadline 04 October 2016 (second round 11 April 2017) Support will be provided to clinical trials on substances where orphan designation has been given by the European Commission, where the proposed clinical trial design takes into account recommendations from protocol assistance given by the European Medicines Agency, and where a clear patient recruitment strategy is presented. Detailed information available here.

Time to get involved with Rare Disease Day 2016
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Rare Disease Day has taken place on the last day of February each year since its launch in 2008, with thousands of events taking place around the world. The event aims to raise awareness, amongst the public and politicians, about rare diseases and their impact on patients lives.

Last year events were organized in over 80 countries. This year is expected to the largest to date and will take place on the rarest day of 2016, 29 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.

Important dates to remember for upcoming meetings
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We would like to highlight the following meetings and some important upcoming dates you will need to be aware of if you are considering attending.

Myology 14-18 March in Lyon, France
We recommend you register for this meeting before 31 January to ensure you make take advantage of the earliy bird rates that are currently available.

ICNMD 5-9 July in Toronto, Canada
The deadline for submitting abstracts is 1 March. Early bird registration closes 15 April.

Neuromuscular Update Meeting 3-6 May in London, UK
Registration is now open for the MRC Centre for the Update in Neuromuscular Disorders Meeting in London. This is the 8th year the four day clinical course has taken place, organised by consultants from the Institute of Child Health and the Institute of Neurology, University College London. The course will concentrate on the natural history and management of neuromuscular disorders with an emphasis on clinical cases. Held at the National Hospital for Neurology and Neurosurgery, the first two days will focus on paediatric neuromuscular disorders whilst the final two days will concentrate on adult neuromuscular disorders. Further booking information is available here with registration closing on the 1 May. For further information please contact Jacky Molyneaux.

To find out about many more upcoming events that will be of interest to the neuromusclar community please visit our meetings and events section of the website.

Collaborative partnering opportunities
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Escala Therapeutics, Inc., a majority-owned subsidiary of Fortress Biotech, Inc., is a development stage company focused on the clinical development and commercialization of N-acetyl-D-mannosamine (ManNAc) in collaboration with NIH investigators. Escala Therapeutics, Inc. is currently seeking new academic and industry partnerships to develop other therapies for orphan/ultra-orphan, rare or neglected disorders. If you require any further information or would like to discuss potential partnering opportunities with Escala leadership team, please contact info@escalabio.com.

Institute of Myology seeks Research and Medical Director
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The Institute of Myology is seeking exceptional candidates for the position of Director of the Research Center in Myology Research / Medical Director. Ideally, the candidate would be the same for the two positions.

This dual position offers important opportunities to promote scientific breakthroughs and to lead decisive changes in the field.

Closing date for submissions has been fixed for 29 February 2016.

Share your news
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If you have any events, opportunities or news you would like to share with the rest of the neuromuscular community opportunity please get in touch and submit an article for next month's newsletter.

Further information is available here.

Submit an article
Past newsletters
29th January 2016
TREAT-NMD newsletter - 29th January 2016
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