17th August 2018
Newsletter articles - Your feedback required!

The TREAT-NMD newsletter goes out to over 3,000 subscribers every month. We want to ensure that that we produce the most relevant content for all of our subscribers and in order to do this we welcome your feedback. We would like to invite you to complete a short survey to let us know how we can improve future newsletters for all of our subscribers. The survey should take no more than two minutes to complete. To take part in the survey, please click here.

We would like to take this opportunity to remind you that you can submit articles you would like to be considered for future newsletters here. If you have a meeting, conference or event you would like to promote in the events section of our website, please submit your suggestion here.

SMA Expert Masterclass
back to top    

TREAT-NMD are delighted to announce that the first SMA Expert Masterclass  will be co-chaired by Professor Eugenio Mercuri and Professor Nathalie Goemans. It will take place between 19th - 20th of November in Rome, Italy.

The debilitating nature of Spinal Muscular Atrophy (SMA) means that timely diagnosis and effective care are integral to improving the prognosis and quality of life of patients with this life-limiting condition.

The two-day expert masterclass will provide a platform for health care providers to share ideas, challenges and successes in delivering optimal care to people with SMA.

Leading experts will deliver presentations and interactive workshops to disseminate information on:

  • Latest updates on standards of care.
  • Current treatment guidelines and available therapy options with review of market access options in Europe.

The masterclass is suitable for all health care providers who may encounter and provide care to patients with SMA. There are a limited number of spaces available to other professions but places for health care providers will be given priority.

View the programme here.

Programme may be subject to change.

The registration fee is €330. You can apply to attend using the link below. Once you have registered your interest someone will contact you with the registration page and hotel information.

Register your interest here

Funding: Some pharmaceutical companies may provide financial support to healthcare professionals. Please contact a pharmaceutical company employee in your country to ask about the process that is involved. TREAT-NMD have a limited number of bursaries reserved for HCPs if you are unable to secure funding through a pharmaceutical company and have no other way to finance attendance please contact Nicole.oconnor@ncl.ac.uk.

World Duchenne Awareness Day - Implementation of the updated Standards of Care
back to top    

On September 7th 2018, during World Duchenne Awareness Day 2018,  there will be activities to raise awareness for Duchenne Muscular Dystrophy (DMD) around the globe. This year's theme is: 'Implementation of the Standards of Care’. After the publication in the Lancet Neurology earlier this year we now need everybody’s support to implement the updated  Standards of Care (or Care Considerations). After all, the real value of Standards of Care is in the implementation. Awareness of the importance of receiving and providing care according to the international standards is key for families as well as for clinicians. Conferences will be held in several countries including Australia, Switzerland, Greece and the Netherlands.

During the international Duchenne Care Conference, in Amsterdam NL, clinicians will be updated about the Standards of Care, followed by discussions on the implementation of the Standards of Care and the possible challenges. Around the globe the Conference can be followed through live streaming. For more information about the conference, please click here. The presentations will be available on the World Duchenne Organisation website after the conference.

For DMD families there will be the release of the Duchenne Family Guide (a combined effort of Parent Project Muscular Dystrophy (PPMD)Muscular Dystrophy Association (MDA)World Duchenne Organization (WDO, formerly UPPMD) and TREAT-NMD) based on the Lancet publications. In parallel, they have released 'explanimations' which are short explanatory animations.  These explanimations will be launched and made available for translation in other languages. In these video’s the different aspects of Duchenne care will be explained at different stages of the disease in lay language.

For more information on World Duchenne Awareness day, please click here. You can follow the activities being carried out across the world on Facebook and on Twitter.

Meeting Report - Euro NMD Neuromuscular Summer School
back to top    

The first Neuromuscular Translational Summer School took place between 2nd-6th July in Newcastle upon Tyne, UK. Devised by Professor Annemieke Aartsma-Rus, Silvere van de Maarel and Dr Teresinha Evangelista, a programme for the week-long course was developed to address the specific aspects of the established translational pathway in clinical trials.

The fifteen attendees, guided by fourteen topic experts, spent the week moving through the extensive syllabus. Beginning with Session 1 “Translational Lifecycle”, moving into Session 2 “Clinical Trials” and concluding with Session 3 a “Patient Communication Workshop”.  Each session was a dynamic mix of both lectures and group discussion with role play.  Attendees were presented with hypothetical scenarios which they were asked to debate and consider, including the ethical implications of a child’s involvement within a clinical trial and the use of MRI and other procedures in a hypothetical drug review scenario within a mock TACT review.

Feedback is an important tool in the shaping of future events and attendees of the Summer School were asked to provide feedback to the workshop organisers via individual comments and a short presentation. Their comments will be acted upon in the planning of the next Summer school which will take place in Leiden, Netherlands.

The full report can be found here.

Cure SMA Grant Requests
back to top    

Cure SMA have recently announced they are looking for grant applications to fund multiple basic research projects and postdoctoral fellowships to investigate the causes and biology of Spinal Muscular Atrophy (SMA).

They anticipate awarding at least $1,000,000 in total funding comprised of 1-2 postdoctoral fellowship and 5-6 basic research grants.

Cure SMA wants to encourage applications on novel research that will enhance understanding of SMA disease pathology at the molecular, cellular, and biochemical level; generate key reagents and tools to facilitate drug development and clinical trials; and identify new therapeutic strategies for SMA, in particular combination approaches.

They welcome high risk, high reward projects and value the ability to provide seed funding for these types of exploratory projects. Please note that high risk projects are generally not awarded maximum funding without compelling preliminary data.

To apply for a basic research grant, please download a copy of the grant application form.

The deadline for submissions is Friday 7th September 2018.

Go to the following link Cure SMA funding opportunities for further information or contact the Cure SMA scientific programme manager Jackie Glascock (jackie@curesma.org) for further information.

PREFER Study on Patient Preference in Neuromuscular Disease
back to top    

Dr Grainne Gorman and Dr Cecilia Jimenez-Moreno are leads of the PREFER patient preference case study on neuromuscular disorders (NMD). This study will establish the basis to better include the patients' voice into the drug development cycle.

The PREFER study will include patients with Myotonic Dystrophy type 1 (DM1) and mitochondrial disorders.

According to Cecilia Jimenez-Moreno, there are not many patient preference studies in this field. However, she believes studies of this nature have a potential impact for NMD patients by encouraging industry, or supporting evidence for regulatory authorities to push forward the drug development process.

PREFER video can be accessed here.

Results from the study to date can be found by clicking here.

RD Connect - Community Launches
back to top    

RD-Connect is an EU-funded integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. To help researchers study rare diseases, RD-Connect links different data types - omics (e.g. genomics), clinical information, patient registries and biobanks - into a common resource. RD-Connect enables scientists and clinicians around the world to analyse genomics data and share them with other researchers in a safe and secure way. By making data accessible beyond the usual institutional and national boundaries, RD-Connect speeds up research, diagnosis and therapy development to improve the lives of patients with rare diseases.

RD-Connect are pleased to announce the launch of the RD-Connect Community. The RD-Connect Community is an independent, non-governmental, not-for-profit, international association of individuals and organizations sharing the vision of building an open community that works to improve rare disease research. The Community’s mission is to promote, facilitate and accelerate rare disease research by maximizing the availability and (re)use of rare disease data and biosamples through provision of infrastructure, tools and services to share, analyse and link datasets and biosamples in a secure and regulated way. By promoting data sharing and analysis tools and the data sharing ethos among rare disease researchers and clinicians and by raising awareness among patient communities and policy makers, the community aims to maximise the impact of the tools and services developed by RD-Connect members.

You can find out more about the RD-Connect Community from their latest newsletter by clicking here.

Myotonic Dystrophy Foundation : Request for applications in Genome Editing
back to top    

The Myotonic Dystrophy Foundation (MDF) is pleased to announce a Request for Applications (RFA) for the Development of a Genome Editing Strategy for Myotonic Dystrophy Type 1 (DM1).  Through this RFA, MDF recognizes a need to advance genome editing technology and evaluate its potential as a therapy for use in DM1.

MDF intends to issue two 2-year awards of up to $250,000 total cost for projects that address the evaluation of genome editing strategies that target the DMPK gene.  The focus of the RFA is on early stage discovery and development of in vivo genome editing technologies in academic laboratories or other non-profit research institutions, utilizing state-of-the-art knowledge.

Collaborations between experts in genome editing technologies and those with strong track records in myotonic dystrophy research are strongly encouraged.

Applications are due November 30, 2018.

More information and the full RFA can be found on the MDF website.

Family Guides for Share 4 Rare Platform
back to top    

The John Walton Muscular Dystrophy Research Centre at Newcastle University is one of the partners developing information for patients and families affected by rare neuromuscular diseases for the new Share4Rare platform. To avoid duplicating work that has already been done, we would like to reach out to the TREAT-NMD community to gather information about existing family guides for diseases and/or languages other than those already available on the TREAT-NMD website. Information from existing guides will not be used without permission. Please contact Avril Palmeri at avril.palmeri@ncl.ac.uk for more information.

Share4Rare has received funding from the European Union’s H2020 research and innovation programme under grant agreement No 780262.

Subscribe to Share4Rare Newsletter
back to top    

The first Share4Rare (https://www.share4rare.org/) newsletter is planned for the end of September. Please subscribe at http://bit.ly/S4RNewsletter to receive the newsletter and learn more about this collaborative project to develop a platform for rare disease patients and their families.

This project has received funding from the European Union’s H2020 research and innovation programme under grant agreement No 780262

TACT July meeting
back to top    

The TREAT-NMD Advisory Committee for Therapeutics (TACT) met in Vienna in July to review four applications. After the TACT meeting took place, members of the TACT review panel participated in a teaching course on understanding drug development in neuromuscular diseases at the ICNMD conference. This meant for a busy, informative and very productive few days.

On 4th and 5th July, a review panel comprising the TACT Core Committee and experts from the Extended Committee discussed 4 applications as a culmination of an on-line review process that took place during June. Applications recieved were in FSHD, Pompe disease and DMD and came from both industry and academic-led teams. The applicants joined for part of the meeting to discuss their requests for advice face-to-face. The Lead reviewers (Cristina Csimma, Kanneboyina Nagaraju, Anna Mayhew and Tracey Zoetis) are now finalising the comprehensive and confidential reports which will be sent to each applicant in the coming days. The panel were delighted to be joined by new expert members, including patient representatives Fabiola Bertinotti (FSHD), Maryze Schoneveld van der Linde (Pompe)and Alan Muir (Pompe). Fabiola has kindly provided us with her review of her first TACT meeting, which can be found here.

Some of our new members also joined the TACT teaching course on Friday 6th July and the feedback from attendees confirms that the session was both extremely informative and highly engaging. Experts from TACT discussed the common pitfalls that are seen in applicants’ programmes - they were able to explain what was vital to consider including from pre-clinical planning to outcome measure selection, regulatory considerations and statistical analyses. This was followed by a mock TACT review where attendees were able to have a real ‘fly-on-the-wall’ look at how TACT operates. The panel considered a mock application from ‘Cabbage-Broccoli Pharma’ submitted by Aniyobennak Ujaragan also known as TACT member Raju! Although the application was not real, it did address many common issues raised in drug development and they were discussed in depth by the panel as they would a real TACT application. The session finished with lots of questions from the attendees.

If you are interested in learning more about TACT and/or would like to submit an application for consideration, please contact Cathy Turner (catherine.turner@newcastle.ac.uk).

Job opportunities
back to top    

Does your organisation have any exciting job or research opportunities that you would like to promote? You can do so on the TREAT-NMD website. The TREAT-NMD website is visited by 7,500 people every month and it is free to list job and research opportunities. If you would like to list a job oppourtunity relating to academia, clinical care and patient organisations, you can submit requests for consideration here.

TREAT-NMD Membership update
back to top    

In the December newsletter, the TREAT-NMD Executive Committee invited you to become a TREAT-NMD member. Our membership total has risen to 618 individual members in August! We are over half way to our target of 1,000 members by 2019.

TREAT-NMD membership is free and our individual members will benefit from:

  • Discount on TREAT-NMD conference registration fees
  • 20% discount to the Journal of Neuromuscular Diseases individual yearly subscription and 10% discount to Open Access fee for papers being submitted
  • Opportunity to nominate yourself or nominate a TREAT-NMD member to fill a vacancy on the Executive Committee
  • You get to vote on a number of TREAT-NMD matters!

Organisational membership is free and benefits include:

  • Organisational members will appear on the TREAT-NMD website to show they are affiliated with TREAT-NMD
  • Organisational members will be able to use the TREAT-NMD logo on their website to show that they are affiliated with TREAT-NMD
  • 20% discount to the Journal of Neuromuscular Diseases individual yearly subscription and 10% discount to Open Access fee for papers being submitted

To find out how to become a member and to apply, please click here. If you are already a member and have recently changed your email address, please notify us of your new address by emailing info@treat-nmd.eu.

back to top    

British Myology Society Adult Muscle Teaching day

4th September

Cambridge, UK

The Adult Muscle Teaching Day is open to all who wish to learn more about muscle disorders that they will meet in everyday practice. The course will provide practical, real-world advice from expert clinicians for clinicians faced with patients with muscle symptoms. The course programme will include: Clinical approach to the muscle patient, efficient investigation, Myositis, Rhabdomyolysis, Myasthenia Management, OPMD and Mitochondrial disease.

For more information, please click here.

British Myology Society Annual meeting

4th - 5th September

Cambridge, UK

The British Myology Society is a multidisciplinary professional body of experts founded in 2009, that aims to promote clinical practice, education and clinical trials in relation to muscle disease, myasthenia gravis and spinal muscular atrophy. It is intended to be a forum of consultant level experts to consider these issues.

The programme for this year's meeting includes:
Updates in Duchenne standards of care and clinical trials

  • Bone and Endocrine Management in Duchenne
  • Clinical trials updates in Myotonic Dystrophy and FSHD
  • Research and Clinical trials in IBM

For more information and to register, please click here.

Duchenne Care Conference

7 September

Amsterdam, Netherlands

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 is now available on the DPP NL website here.

Speakers include:

  • Prof Eugenio Mercuri, paediatric 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, paediatric neurology  (Leiden, NL)
  • Dr Linda Cripe, pediatric cardiology (Colombus, US)
  • Dr Anne Connolly, paediatric neurology (St Louis, US)
  • Marleen van den Hauwe, psychical therapy (Leuven, BE)

For more information and to register, please click here.

2018 MDF Annual Conference

14th-15th September

Nashville, USA

The 2018 Myotonic Dystrophy Foundation (MDF) Annual Conference takes place between 14th-15th September in Nashville, TN. This year’s conference will feature networking, symptom management and research update sessions for community members and a full-day closed research and drug development track for academic and industry professionals.

This year's conference will gather more than 400 families, clinicians, researchers, industry representatives and caregivers working to improve the lives of people living with myotonic dystrophy. Community members at the 2018 MDF Annual Conference will learn about daily living and disease management strategies, find new resources, products and services, hear research and drug development progress updates and create new friendships and support options via formal networking and community-building opportunities.

Professionals attending the 2018 MDF Annual Conference can select from an array of closed professional meetings and sessions building on the work of IDMC-11 and research and drug development advances in myotonic dystrophy, including these highlights:

  • Breakfast Meeting: Drug Development Roundtable
  • Current Advances in DM2 ResearchMolecular & Imaging Biomaker Development for DM Studies
  • DM Disease Burden: Results of Recent StudiesGene Therapy Development for DM
  • Professionals are invited to submit abstracts for the Friday afternoon Poster Session.

To view the full agenda, please click here.

For more information and to register, please click here.

2nd Annual World Congress: Lessons learned from rare disease and personalised medicine approaches

17th-18th September

Cambridge, USA

The 2nd Annual World Congress: Lessons Learned from Rare Disease and Personalised Medicine Approaches will take place on September 17-18 at the Royal Sonesta hotel in Cambridge, MA.

The conference agenda is a mix of presentations, panel discussions and short technology demonstrations that will cover a wide range of strategies for drug discovery. While the focus of the conference is rare diseases and personalised medicine across various therapeutic areas, there will be a broader discussion around drug discovery approaches and innovative therapeutic modalities that are being employed in the rare disease space. In addition to cutting-edge science, the agenda features the voices of patient advocates.

For more information and to register, click here.

2018 Golden Helix Summer school

26th-30th September

Syros, Greece

Organisers from the Golden Helix Foundation are pleased to announce the 2018 Golden Helix Summer School, that will be held on the island of Syros, Greece. This year's Summer School theme will be "Rare Genomics: Genomics of Rare Diseases, Rare Cancers and rare Drug Outcomes" and will revolve around the application of the  disciplines of Genomic Medicine, such as genome discovery, informatics, public health, drug design in rare diseases, Cancer and pharmacogenomics.

Members of the faculty will engage in lively discussions with the summer school participants about issues related to career advancement and key topics related to the theme of this meeting, respectively.

The organisers have kindly provided members of TREAT-NMD with a 10% discount. If you would like to take advantage of this offer, please contact secretariat@goldenhelix.org for more details.

Summer Newsletter dates
back to top    

We are amending the Newsletter dates over the summer. The next Newlsetter will be published around the end of September, then we will go back to our monthly publication dates of the last Friday of every month.

Submit an article
Past newsletters
17th August 2018
TREAT-NMD newsletter - 17th August 2018