TREAT-NMD joins FSHD Community in Commemorating World FSHD Day

Myotubular Trust Launches 2021 Grant Call

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The Myotubular Trust has announced their 2021 call for research grants. The trust are looking to fund projects that will help find a cure and/or a treatment for any form of centronuclear and myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. 

Applications may be made for: 

1. Project Grants - the Trust will consider applications from the Principal Investigator for projects 2-3 years duration to be carried out by a Post-Doctoral researcher or PhD student. 

2. A Myotubular Fellowship, non-clinical - the Fellowship scheme is designed to support early career scientists to help them develop their independence. 

Completed applications should be submitted by 5pm GMT on Friday 29th October 2021. The Trust anticipates that awards will be made in April 2022. For more information please visit the Myotubular Trust website. 

TREAT-NMD Ethics Board (TEB) Seeks Patient Board Member

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The TREAT-NMD Alliance Ethics Board (TEB) is a multidisciplinary group with representatives from patient advocacy groups, neuromuscular scientists, clinicians and philosophers. The TEB discusses ethical and social aspects related to neuromuscular disease care, research, therapy development and treatment access. This happens during quarterly virtual meetings and if needed ad hoc meetings to discuss urgent matters. The TEB produces guidance documents such as online reference tools, papers in scientific journals and open letters. 

The TEB feels that it would be beneficial for its discussions to have more representation from actual patients. If you are a patient with a neuromuscular disease and you have an interest in ethics, please contact us to nominate yourself for the TEB.

For more information on the TEB please visit the TREAT-NMD website 

Applications Now Open for TREAT-NMD LGMD Latin American Expert Masterclass

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The TREAT-NMD Education Team are pleased to announce that registration is now open for our next LGMD Latin American Expert Masterclass. 

This free, live, online event will be taking place on 3-4th November 2021 and will be presented in both Spanish and Portuguese languages. If you wish to learn more about the event, and other TREAT-NMD masterclasses, please visit our pages of the TREAT-NMD website. 

Not sure what to expect from one of our masterclasses? Dr Maha Elseed, a specialist doctor in Clinical Neuromuscular Diseases from the John Walton Muscular Dystrophy Research Centre in the UK, has provided her thoughts on the European LGMD masterclass: 

“In April 2021 I attended the virtual TREAT-NMD LGMD European Expert Masterclass. At a time when the COVID 19 pandemic has grounded thousands of planes, it was fascinating to go on an online tour around the world (with the sights and sounds of Spain!) to learn about the updates in the fascinating field of genetic neuromuscular disorders.

The Masterclass began by covering the impact of LGMD on patient's lives. These opening sessions were presented by both patients and parents of patients living with LGMD. Their stories really hit home and allowed us insight into the practical challenges patients face each day. This led nicely into the clinical lectures where the subspecialty ‘best practice’ series of live talks regarding cardiological and respiratory care management were all very practical, nicely presented and emphasized the role of the neuromuscular clinician in coordinating the care of these patients. There was also a live talk about the role of Muscle Biopsy in the diagnostic process of LGMD which was very interesting. We were asked which lecture we found most enjoyable, and being a clinician, I mostly enjoyed the lecture presented by Dr Giorgio Tasca about the uses and applications of MRI in diagnosis of LGMD. MRI is likely to play a central role in the diagnosis of LGMDs as more and more patterns are being realized in different genetic forms of LGMD, so this talk was particularly interesting for me.

What was also interesting was the opportunity, after each live presentation, for a dedicated ‘Question & Answer’ session where delegates were able to post live, moderated questions to experts and these questions were discussed and answered during the masterclass which was an added bonus.

I would like to congratulate the Masterclass co-chairs, Dr Michela Guglieri and Professor Jordi Diaz-Manera, on such an impressive event. This Masterclass has provided me with an enhanced understanding of LGMD and broadened my horizons and was overall a very rich experience. I highly recommend the LGMD Masterclass to any future neuromuscular trainees as it brings together superb clinicians in neuromuscular diseases with a wealth of expertise in the field.”

"These Wonderful Learning and Networking Opportunities":  A delegate's perspective on the TREAT-NMD DMD Expert  Masterclass.

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The most recent TREAT-NMD Masterclass took place virtually last month. We reported on the event in the May edition of the newsletter but we are pleased to say that masterclass attendee, Fatima Vido-Vecchio, a physiotherapist working at BC Children's Hospital in Vancouver, has agreed to offer her thoughts on the event: 

"In May 2021 I had the pleasure of attending the virtual TREAT-NMD DMD Expert Masterclass. The event had been planned as a face-to face event due to take place in São Paulo, but like many other events this changed to virtual. We are all used to the world of online meetings and know what to expect, but this was no ordinary Zoom meeting!

This TREAT-NMD DMD Masterclass was a great success in many ways. There was the exceptional line-up of expert speakers delivering a range of sessions from diagnosis to genetics and standards of care to the all-important patient perspectives. This combined with the breakout groups where there was a chance for discussion, debate and networking the virtual masterclass struck the perfect balance. But what was particularly thrilling for me personally, as I am originally from Brazil and São Paulo to be exact, was to see so many people from Latin America joining forces with others from many other corners of the world to learn more about DMD.

Much of the focus of this masterclass was on patient perspective. The talks from each of the patients and parents of patients were inspirational in terms of the insight into life with DMD. I found these sessions incredibly helpful, particularly at this unusual time in which we are living with COVID-19 and we are adapting our practice. During the discussion sessions, I learned that in some circumstances the Pandemic has helped with access to services; some people who live far from specialized centres now have easier and more frequent access to services via virtual consultations.

There was also plenty of time and space for more discussion by using the masterclass platform and app Whova. This made it simple for us to connect, discuss and post questions to the speakers on any topic before, during and after the masterclass. We also had time to create a virtual DMD community-where we arranged a follow up focus meeting with other physiotherapists! All in all, a great success! But it doesn’t end, or should I say start there for me.

I have had the honour of connecting with TREAT-NMD as a member and I have attended other masterclasses, in SMA and LGMD, in the past.  These opportunities have contributed to my professional growth as well as the improvement of the quality of services to the families we serve at our hospital.  Following each masterclass or TREAT-NMD event I have shared the resources and knowledge I have learned during these wonderful learning and networking opportunities. I learned how to best educate boys and their families about DMD. I was able to show community therapists how to access resources and how to spread their learning to their colleagues and co-workers.

Attending TREAT-NMD Masterclasses has given me the knowledge and confidence to apply for and be hired for the position of Physiotherapist at the NM Clinic at my hospital. Attending masterclasses also gave me confidence to present at our Paediatric Symposium and at Jesse’s Journey Defeat Duchenne Family Forum on the topic of DMD and I became a member of the Advocacy Committee with the Muscular Dystrophy Canada. All because of attending TREAT-NMD Masterclasses! All that remains to say is a huge thank you to TREAT-NMD for the hard work and commitment in bringing us together."

If you have attended a TREAT-NMD event and would like to share your thoughts please contact info@treat-nmd.com

TREAT-NMD Global Registries Platform Update

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Our Global Registries Platform project is continuing to progress with the different disease sets and the team are working in collaboration with the TREAT-NMD disease dataset project managers on the next phases.

The SMA Clinician and Patient Portals went live on 14th June and our team are assisting the SMA registries with the on-boarding of Option 1 registries (those using the Platform directly) which includes training schedules, platform support manuals and user access credentials. The team is also assisting with Option 2 (those sharing data indirectly) registries and collaborating with the dataset Project Managers to support registries in implementing the updated datasets for SMA and DMD.  This collaboration will also help the registries and support team later in the year when the first transfer of de-identified patient data is made to the Central Data Warehouse.

The LGMD Core Dataset Feasibility study and Pilot study went live on 14th June and will run until August and is being tested by a variety of clinician and patient registries. The study is also helping to test the Global Registries Platform and will provide valuable feedback on the LGMD disease module on the system and any improvements that can be implemented before going live towards the end of the year.  If you have any questions on this or the LGMD dataset please contact the Dataset Project Manager, Sonia Segovia.

The DMD dataset project has undergone some recent functionality changes and these are due to be built into the system over the coming weeks. During this development period, the patient and dual reported portals will also be built and will be then released to the Global Registries Platform support team for testing.

The platform support team are continuing to assist the registries and dataset Project Managers to help increase the registries uptake and use of the Global Registries Platform and also to enhance the user experience.

Some key dates:

• The SMA Clinician and Patient Portals going live on 14th June.
• LGMD Feasibility study and Pilot study are live from 14th June and will run until mid-August.
• The DMD datasets have recently undergone some further working group discussions and have now been agreed. The discussions have resulted in some changes to the functionality of the DMD dataset which will soon be reflected within the system. The DMD datasets are therefore expected to be released in mid-September.

For further information on the TREAT-NMD Global Registries Platform or to participate as a ‘test registry’ then please contact Caroline Ogden, Project Manager or visit our website to learn more.

TREAT-NMD DMD, SMA and LGMD Datasets Workshop

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Throughout 2021 the TREAT-NMD dataset project teams have worked tirelessly to harmonise the TREAT-NMD Core Datasets structure and format across the different disease areas (DMD, LGMD and SMA). Because the core datasets are structured, presented and described in a very technical way it was decided to deliver a virtual workshop, on the 19th and 20th May, for TGDOC registries.

The workshop provided a comprehensive overview of key differences to the new datasets, and guidance on how to interpret, adopt and implement the datasets within their registries. 

The workshop included:

• A comprehensive introduction
• Review of key changes
• Dataset's structure.
• Testimonial from SMA registries that have implemented the SMA dataset V2.
• Working examples for all datasets.
• Disease specific examples.

In total 70 registry representatives attended the workshop. We catered to a diverse audience of patient and/or clinician reported registries, disease specific registries, and all neuromuscular disease registries. Feedback from the participants was very positive with the majority highlighting the usefulness of the workshop.

You can find a more detailed information in the Workshop report available on the TREAT-NMD website.

Conect4Children Launches Newsletter

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Conect4Children (c4c) has launched a new monthly newsletter. c4c is a large collaborative European network that aims to facilitate the development of new drugs and other therapies for the entire paediatric population.
Each edition of the new newsletter will provide readers with an update on the c4c network and the reasons for its creation. 

If you would like to learn more about c4c, or subscribe to the newsletter, will go to the conect4Children website. 

Toolkit Launched to Support Global Call for UN Resolution to Address the Challenges Faced by Persons Living with Rare Disease in 2021

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In April Rare Disease International, EURORDIS, and the NGO Committee for Rare Diseases launched a toolkit to support the global call for the UN Resolution on Addressing the Challenges of Persons Living with a Rare Disease and their families. 

Organisations are urging the United Nations Member States to recognise the challenges facing the global rare disease community and adopt the first ever UN Resolution to promote inclusion and protect the human rights of people living with a rare disease worldwide.

The overarching goal of the campaign is to recognise that people affected by a rare disease are an overlooked population requiring immediate and urgent attention and overarching policies, which address their needs and contribute to achieving the 2030 Sustainable Development Goals.

To learn more about the campaign and the toolkit please visit the EURORDIS website. 

Share4Rare's First Call for Research Projects

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Share4Rare, is pleased to announce their 1st call for research projects is now open and will be accepting applications up until 15th July 2021. 

Share4Rare (S4R) invites patient organisations and investigators in the field of rare diseases to apply to conduct their patient-centered studies within S4R platform. The ambition of the S4R project is to put patients at the center of research, not only by asking them directly about the conditions they live with, but also through the provision of a safe, online platform within which users can raise their own scientific research questions. 

To find out more about the call and its criteria please visit the Share4Rare website. 

Registration and Abstract Submissions Open for 3rd International Conference on Imaging in NMD 2021

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MYO-MRI are pleased to announce that the third International Conference on Imaging in Neuromuscular Disease will take place on the 8th and 9th November 2021 as a live online event. This year’s conference will be chaired by Pierre Carlier and Hermien Kan and features internationally recognised speakers including Melissa Hooijmans, Werner Stenzel, Dominik Weidlich and Andoni Urtizberea.

The conference programme takes place across two days. Each day is comprised of lectures, debates and poster presentations with awards. Further details about the programme can be found on the MYO-MRI website.

Young researchers and trainees are encouraged to attend and participate in the conference. Abstracts will be featured as presentations prior to the live event on the conference app. Delegates will have the opportunity to post comments and questions, then poster pitches will be presented during the live event. The deadline for abstract pitches is 1st September 2021. Further details regarding submission can be found here.

The third International Conference on Imaging in Neuromuscular Disease is endorsed by the International Society for Magnetic Resonance in Medicine and the European Reference Network NMD.

For sponsorship opportunities please contact Clare Bradley.

Share your Reason for European Action for Rare Diseases

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EURORDIS-Rare Disease Europe is calling on the rare disease community to join the #30millionreasons campaign for European action on rare diseases, following the two year EU backed Rare 2030 Foresight Study. 

EURORDIS-Rare Diseases Europe, National Alliances and 962 member organisations have launched the #30millionreasons campaign calling for a European action plan on rare diseases to improve the life of every person living with rare disease in Europe. 

The #30millionreasons campaign is a platform for public, civil society and private sector, academia and policy makers to share their reasons and raise awareness for coordinated European action in the area of rare diseases. 

The success of the campaign will be measured by the level of support for an updated, integrated and goal-based plan paving the way for the next generation of rare disease policy at the European and national levels. For this reason it provides all interested parties with an advocacy instrument to articulate a shared vision for a more inclusive and sustainable future and advance the rare diseases agenda within their local and national communities.

If you would like to learn more or get involved in the campaign please visit the EURORDIS website. 

Special Issue of Journal of Neuromuscular Disease Published

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The first special issue of the Journal of Neuromuscular Diseases (JND), dedicated to "Treatabolome", a new concept emerging from a European Project addressing unsolved rare diseases (Solve-RD), has been published.  This open access special issue covers gene and variant specific treatments of rare diseases, particularly rare neurological and neurological disorders, thereby highlighting the important premise that a precise genetic diagnosis may result in equally precise therapeutic approaches. 

Although such targeted treatments are currently only available to a minority of RD patients, recent developments point towards a steep increase in the coming years, as suggested by the development of multiple gene therapies and the steady increase in the number of orphan drug applications. 

The JND is dedicated to providing an open forum for original research in basic science, translational, and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.