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30th April 2019
TREAT-NMD Advisory Committee for Therapeutics Meeting in Glasgow

The TREAT-NMD Advisory Committee for Therapeutics (TACT) gathered in beautiful sunny Glasgow, Scotland on April 12-13th to review four applications from industry. These were from Roche, Lion, Edgewise and Biophytis and included therapy development programmes in limb girdle muscular dystrophy (LGMD) and Duchenne muscular dystrophy (DMD).

We welcomed new advisors to the panel – Ketan Patel (University of Reading), Helge Amthor (University of Versailles), Julie Dumonceaux (University College London), Kevin Campbell (University of Iowa), Steve Winder (University of Sheffield), Kate Adcock (patient advocate, MDUK) and Shaun Swanepoel (patient advocate, LGMD) as well as observers from the IMI2 project c4c and EATRIS and a future reviewer from Brazil who all wanted to learn more about the TACT process and how it works to advise on therapy development.

There were four lively and productive sessions where the applicants also joined for face-to-face discussions with the panel; the lead reviewers are now busy writing up confidential, comprehensive reports for the applicants based on input from the whole advisory panel. These will be followed in late June by a brief, public statement on the TACT website, summarising the applications that have been reviewed. These statements are always agreed with the applicants before posting to ensure everyone is happy with what we share. At the end of the first long day of discussion, the panel relaxed with a walking tour of Glasgow before dinner.

The next meeting of TACT will be in Toronto, Canada on 2-3 November 2019. After that we will be in Bari, Italy on 25-26 April 2020. If you are interested in knowing more, or would like to submit an application, please let us know as soon as possible. TACT requests that full applications are received at least 10-12 weeks before the meeting dates, but expressions of interest should be made before this.

You can find out more about TACT at our website or by emailing Cathy Turner: catherine.turner@ncl.ac.uk

Funding for TACT: TACT is funded through a combination of contributions from industry applicants and through generous support from patient organisations which have included: PPMD, Cure Duchenne, MDUK, MDA, Joining Jack, Duchenne UK, Duchenne Ireland, Myotubular Trust, Duchenne Now, Duchenne Children’s Trust, SMA Europe

TREAT-NMD Blog: Sunshine on la Journée FSH in Nice - Fabiola Maria Bertinotti
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Continuing our new blog series, Fabiola Maria Bertinotti, VP FSHD EUROPE and a member of TREAT-NMD Executive Committee, discusses her attendance of La Journée FSH.

"I was honored to be invited to La Journée FSH as a patient expert in the FSHD space and as a founder of and 10-year activist at FSHD EUROPE. The atmosphere of the event was absolutely welcoming. Well organized by the Service Régional AFM-Téléthon, with special assistance from Pr. Sabrina Sacconi’s team and AFM-FSHD group representative Marie-Martine Fleck, la Journéé took place in large and accessible premises at Centre Hôpitalier Pasteur in Nice during a sunny day in October 2018. The patients attending were definitely high level, smart, demanding, curious and highly involved in the research programmes proposed by clinical expert Sabrina Sacconi, a Milanese neurologist working in Nice and passionately dedicated to the fascinating and never easy research of FSH - Facio-Scapula-Humeral Dystrophy.

I asked Marie-Martine Fleck what it was like to be a patient’s leader in the space of FSH, and why FSH is gaining more and more attention from the key stakeholders in the neuromuscular world. “I don’t feel I am a leader!” – she uttered – “Our AFM FSH Interest group is a team of around 10 people and we share our actions, questions and solutions. FSH patients feel the responsibility of raising the interest of researchers, clinicians and all the other key stakeholders who have a role in finding a cure to our disease. AFM-Telethon was kind enough to give us an opportunity to host great health professionals during this Journée of update for our patients. The research is progressing and, although no cure exists as yet, all FSH leading actors, including us the patients, feel encouraged and motivated. And you can bet that we, at the AFM, encourage and support FSH experts and patients as much as we can!”

Back to my takeout from this event, I have to say that it was such a charge of positive energy to enjoy a meeting day like this one at AFM-Telethon! First and foremost, I am firmly convinced that people living with FSH must have some ace up their sleeve or a special gift. I’ve always thought this and, although I may sound impartial because my son is affected, I can say that I have a great time and definitely a breath of energizing oxygen whenever I spend time in events like this one.  What you can breathe here is activism, positivity and empowerment. In fact, I met with some highly engaged patients and great health professionals.

From a scientific perspective, lots of good things are underway. I had the opportunity to meet with cool scientists, cool clinicians and hyper cool patients collaborating to speed up the time to a cure (like Sylvie Genet et Pierre Laurien).  I also enjoyed meeting with some key people in the international neuromuscular space like Teresinha Evangelista and Julie Dumonceaux, the former based in Paris at Public Hopitaux de Paris GH Pitié Salpitrière and the latter in London at Child Health, University College.

I had heard about ERN for quite a while but it was only at La Journée FSH that I had the opportunity of meeting Dr Teresinha Evangelista in person. Dr. Evangelista has a major role in the world of neuromuscular diseases. With over 20 years’ experience as a neurologist, she worked at the Medicine Faculty of Lisbon University, and later on in Paris, at INSERM Unit 153 (“Développement, Pathologie, Régénération du Système Neuromusculaire”). An expert of FSH and Congenital Myasthenic Syndromes, and owing to her interest in Rare Diseases policies, a couple of years ago Dr. Evangelista was appointed with the complex task of ruling and setting up the neuromuscular ERN (EURO-NMD) that integrates 61 healthcare providers across Europe. Check this out, as this is the future! https://ern-euro-nmd.eu/about/

During her presentation I noticed that Prof. Julie Dumonceaux was particularly passionate in speaking about her personal involvement with FSHD patients. Later on, I had a great conversation with her where I learned about her extensive expertise in NMD and in particularly in FSH. “I am a Principal Research Associate at the Institute of Child Health, University College London” – Julie explained – “I arrived two years ago to set up the Myology Translational Laboratory composed of two post docs and two research assistants. Our aims are to investigate general aspects of muscle homeostasis such as myostatin mechanisms and how these can be exploited for ameliorating wasting muscle conditions. We also develop innovative treatment approaches for neuromuscular diseases including FSHD. In particular, we have imagined a new approach targeting the DUX4 mRNA in order to induce its destruction. Another approach we are developing is a decoy trapping the DUX4 protein, preventing its binding to the genomic DNA and therefore its toxic effects. Finally, we decipher why and how DUX4 is toxic in FSHD cells and a murine model expressing DUX4”.

Last but not least, I spent some quality time with Dr. Sabrina Sacconi who I have known for many years and for whom I have always had a great respect both because of her expertise and because I can see she is very close to her patients. “The FSHD landscape has changed incredibly over the last 10 years” – Dr. Sacconi declared – “the genetic causes of the disease are now well known, and consequently the number of laboratories working on FSHD has increased significantly, resulting in an increase in the number of publications. Several therapeutic approaches have been proposed and some companies are now involved in the development of these approaches. At the moment FSH has not a specific treatment, but fair enough several clinical trials are planned and definitely opening new perspectives”.

In conclusion, I think that events like Journée FSH should become more widespread across Europe and I dream that sooner or later we can have Worldwide FSH Days, why not? These people are full of positive energy and can act as a catalyst for the scientific community and pharmaceutical industry. FSH is a complex, fascinating rare disease but these people are a clear asset to defeat it in a short time.  I am writing this piece on my return from Paris, where I had the unique opportunity to attend EURORDIS Winter School on Genetics and New Technologies. The crowd of FSH patient experts is growing more and more, we want a cure and we are going to get it soonest!"

If you would like to submit an blog post for the series please contact info@treat-nmd.eu.

Release of RD-ACTION Final Report
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RD-Action has released the final report of its activities and key achievements coordinated by Orphanet at INSERM. This three-year European Joint Action aimed at ensuring an integrated European approach to the challenges faced by the rare disease (RD) community and at promoting, catalysing and triggering multi-stakeholder debates which are necessary both at European level, to build shared strategies, and at national level, to support the integration of EU policies on rare diseases across Member States.

The report outlines key achievements: providing information and data on RDs; improving identification of RDs in health information systems; ERNs support; drafting the State of the Art of Rare Disease Policies in Europe & Beyond; support to sustainable and resilient health systems; fostering national RD plans and strategies; and organising the European Conference on Rare Diseases & Orphan Products 2016. Finally, the document calls on the European Commission to reaffirm its leadership in an area where it is unanimously recognised that the EU added value is very high.

10 Reasons to Join Share4Rare
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We increasingly use the internet as a resource for health information. We also use social media platforms to connect with others living with similar conditions. However, we cannot always be certain that what we are reading is from a trustworthy source or that social media platforms are protecting our privacy.

Share4Rare is a new digital platform that aims to address the needs of patients, families and researchers. The platform will provide accurate information about rare diseases and provide a safe space to interact and share information.

Why should you join Share4Rare if you are a patient or a relative?

  1. S4R is a European Commission funded project under the leadership of the coordination team at Hospital Sant Joan de Déu Barcelona.
  2. Patients and patient advocates have participated in the design and development of the platform through co-design workshops.
  3. The platform connects users across diseases and geographic locations.
  4. The platform guarantees confidentiality.
  5. S4R has the approval of the Ethics and Research Committee of Fundació Sant Joan de Déu.
  6. Only authenticated users can participate in the platform.
  7. The S4R patient advocacy toolkit empowers patients to participate in, drive and lead research initiatives.
  8. Access to accurate, up to date medical content.
  9. Participate in contributing data to help develop new research.
  10. Promotion of research initiatives based on clinical data donation.

The full article on the benefits of joining S4R is available at https://www.share4rare.org/news/10-reasons-join-share4rare

More information about the project is available at https://www.share4rare.org/

EVELAM 2018 - Meeting Report
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Highlights of the 11th Euro-Latin-American Summer School of Myology (EVELAM): Myology at the very end of the world - written by Jorge A. Bevilacqua, MD, PhD from the University of Chile.

Organizing a Myology Course such as EVELAM (the renowned Euro-Latino American Summer School of Myology) at the very end of the world was a risky endeavor. Taking more than twenty international experts from both Europe and Latin America to the far away city of Puerto Varas www.visitchile.com/es/puerto-varas/, close to Patagonia, did not seem reasonable. The potentially interested participants would have been discouraged by the long distance and predictably high expense to cover.  All these considerations were in the mind of the Chilean organizing committee of the 11th edition of EVELAM. Nevertheless, it was felt necessary to bring myology to the medical community of that remote, isolated region of the globe, where many physicians, physiotherapists and patient advocates struggle to treat and help people with rare neuromuscular diseases.  The risk proved to be worth taking and was eventually compensated by the highest attendance EVELAM ever had, more than 200 attendees from the entire Latin American continent enjoyed the course and the beautiful countryside, the exquisite regional food and the traditional folk music from southern Chile. During three days (December 6-8, 2018), participants and faculties had the opportunity to interact and socialize in a very friendly atmosphere. Basic myology and also the latest novelties including innovative therapies were addressed and taught. Clinical cases discussion, together with the important testimony of patients’ associations and ethical debates also took place. The course was held in Spanish and Portuguese. A special issue of the Revista Médica de Clinica Las Condes www.journals.elsevier.com/revista-medica-clinica-las-condes dedicated to neuromuscular disorders and written mostly by EVELAM speakers, was distributed.

The support from the AFM-Téléthon France, Teleton Chile, and the the growing contribution of the pharmaceutical industry, especially Sanofi-Genzyme, Biogen, PTC, and DSL Behring, were essential to guarantee the success of EVELAM.

The next edition of EVELAM programmed for Asuncion, Paraguay, will be lengthened by one more day, with a more dynamic and interactive and lively format for the students. Already scheduled for upcoming EVELAMs are Equator (2020), Costa Rica (2021) and Argentina (2022).

For more information about EVELAM 2018 visit www.cinsan.org/eventos/evelam-2018

For more information about EVELAM in general: http://gelam.free.fr

First Newsletter of the Global Registry for COL6-related Dystrophies Published
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The Global Registry for COL6-related dystrophies has released its first newsletter. The Global Registry for COL6-related dystrophies is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases.

The Spring edition of the newsletter focuses on the 12th Annual Neuromuscular Translational Conference and Muscular Dystrophy UK Patient Information Day which took place on the 4th-6th April in Newcastle.

If you wish to subscribe to the newsletter, or would like to submit an article, please contact collagen6registry@ncl.ac.uk

Registration for the 2019 Myotonic Dystrophy Foundation Annual Conference now open!
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Registration is now open for the 2019 Myotonic Dystrophy Foundation Annual Conference which is taking place on 13th-14th September in Philadelphia.

This year's conference programe will include a host of sessions exploring research, drug development, disease symptom management and will provide formal and informal community networking opportunities.

An all-day Friday (13th September) Professionals Track for industry and academia will provide closed sessions on a variety of current research topics, a Drug Development Roundtable and more.

Professionals interested in attending the full-day meeting: CNS Outcome Measures Development Workshop, being held Thursday, September 12 at the Philadelphia Convention Center, need to register separately for this event.

There will also be a poster session attended by both scientific and patient/family attendees during the Welcome Reception (Friday, September 13 from 5:30 PM to 7:30 PM). Academic and industry researchers are encouraged to submit abstracts to this unique event.

For more information on registration, the programme, accomodation and more please go to the Myotonic Dystrophy Foundation website.

Registration is now open for PPMD's 25th Annual Conference
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Registration is now open for Parent Project Musclar Dystrophy's 25th Annual Conference.

Taking place in Orlando, Florida from 26th - 30th June, the conference will give delegates an opportunity to hear current and criticial information on the topics most important to patients and their families. Top researchers and physicians, as well as industry representatives from around the world will provide updates on the most promising new therapies. As always, PPMD will host an interactive Kids Track for little ones, as well as our Teen/Young Adult track specifically for people living with Duchenne.

If your child has been diagnosed with Duchenne after January 2017 and you have never attended a PPMD Annual Conference, PPMD offers scholarship support to help cover registration.

For more information and to register please go to the PPMD website

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Both TREAT-NMD organised events, and those organised by external parties, will be listed below.

UCL - Update in Neuromuscular Disorders

7-10 May 2019

London, UK

This clinical course concentrates on childhood and adult neuromuscular disorders with an emphasis on clinical cases, natural history and management.

This 4 day course is designed for specialists with an interest in neuromuscular disease; the first two days concentrating on paediatric neuromuscular disorders and the latter two days on adult neuromuscular disorders.

For more information click here


RE(ACT) Congress America

8-11 May 2019

Toronto, Canada

The RE(ACT) Congress – International Congress on Research of Rare and Orphan Diseases – was initiated in 2012 by the BLACKSWAN Foundation to create a forum for and promote scientific cooperation and research on rare and orphan diseases.

The Congress aims to bring together scientific leaders and experts, and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, and exchange ideas. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives.

For more information and to register please click here


Familienkonferenz von ZNM - Zusammen Stark! (Family Conference of ZNM - Together Strong!)

10-12 May 2019

Hessen Hotelpark Hohenroda, Germany

This conference is for German-Speaking people interested in and/ or affected by centronuclear myopathy, myotubular myopathy and central core myopathies (caused by gene mutations in MTM1, DNM2, RYR1, SEPN1, BIN, TTN, ...)

The objective of this event is to gather the families, to counsel them in their daily lives, to explain latest achievements in research but also to make researchers and therapists aware of our group.

For more information please contact Jennifer Bilbao (jennifer.bilbao@znm-zusammenstark.org) or go to the event website


TREAT-NMD Masterclass in Duchenne Muscular Dystrophy (DMD)

16-17 May 2019

Amsterdam, The Netherlands

The masterclass will provide a high-quality educational and interactive meeting for paediatric neurologists and other related specilities who may be diagnosing and/or managing the care of patients with DMD. The meeting will also present the natural history of DMD and review typical signs and symptoms of the disease, explain the genetics of DMD, and underline the importance of mutation-specific diagnosis as early as possible. It will also highlight the updated standards of care (2018) and discuss their implementation and also provide the patient and parent perspectives on diagnosis, care and research in DMD.

More information can be found on the TREAT-NMD Events page.


International Conference on Muscular Dystrophy of Duchenne and Becker - Duchenne Parent Project

7-9 June 2019

Madrid, Spain

Duchenne Parent Project Spain has organized the International Congress on Muscular Dystrophy of Duchenne and Becker, where families have access to the latest advances in the fight to end DMD.

The Congress will analyze the different therapeutic strategies that exist today, and different care methods to improve the quality of life in children, adolescents and adults with Muscular Dystrophy of Duchenne and Becker.

The congress hopes to attract more than 300 delegates, including clinicians, therapists, researchers, pharmaceutical companies and families.

For more information please contact congreso@duchenne-spain.org or go to the conference website


2019 International Myotonic Dystrophy Consortium Meeting (IDMC-12)

10-14 June 2019

Gothenburg, Sweden

For the first time, the IDMC-12 meeting will be held in Sweden in the city of Gothenburg. We are looking forward to a scientifically interesting and important meeting with leading scientists in the field of Myotonic Dystrophy from all around the world. Together, we will present, share and discuss new scientific achievements. We welcome you all to Sweden and hope that we together will make an unforgettable IDMC-12 meeting.

For more information please go to the conference website


More information on upcoming NMD related events and conferences can be found on the TREAT-NMD website

30th April 2019
TREAT-NMD Newsletter - 30th April 2019
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