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27th April 2018
Meeting Report from a session at the 5th International TREAT-NMD Conference

During the 5th International TREAT-NMD Conference (27-29 November, Freiburg, Germany), Annemieke Artsma-Rus chaired the regulatory exchange matters session which included presentations from Eugenio Mercuri, Elizabeth Vroom and Pavel Balabanov. A report on the session has now been published in Neuromuscular Disorders.

This meeting report summarizes the presentations and discussion of the regulatory exchange matters session. The session highlighted how interaction and communication among patients, academics and regulators is important for designing the right development plan that will move from a scientific idea, to preclinical and clinical studies, to regulatory evaluation and end up with an approved drug.

The advantage of an ongoing dialogue and mutual education involving all stakeholders was illustrated using the examples of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, for which drugs have now been approved.

The session ended with an interactive panel discussion to see how the lessons learnt can be applied to other neuromuscular diseases and to prepare for future therapy development.

For the full report, click here.

Standards of care for Congenital Myopathy - update
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The standards of care for Congenital Myopathy (CM) have been updated and are now available on the TREAT-NMD website here. The CM family guide has also been updated and is available here.

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. Therefore, there is a great need to establish guidelines for diagnosis and clinical care in congenital myopathies.

The International Standard of Care Committee for Congenital Myopathies, which includes 59 members from 10 medical disciplines, was established to identify current care issues, review literature for evidence-based practice, and achieve consensus for diagnostic and clinical care recommendations in 5 areas:

  • Genetics/ diagnosis
  • NeurologyPulmonology
  • Gastroenterology/ nutrition/ speech/ oral care
  • Orthopedics/ rehabilitation.

The family guide "translates" the full academic publication, which was published in 2012 in the Journal of Child Neurology, into a form that is more readily understandable to non-specialists and will enable families to have a clear guideline that they can use to discuss their care with their care providers.

The CM family guide is available in English and Russian and work is underway for additional translations. Click here to download the guide from our website.

TACT workshop at ICNMD
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TREAT-NMD Advisory Committee for Therapeutics (TACT) will be hosting a workshop on 'understanding the drug development process for neuromuscular diseases' at the upcoming ICNMD conference in Vienna. The course will cover topics such as:

  • Drug design - requirements and pitfalls
  • Preclinical efficacy data - preclinical trial design, data interpretation
  • Clinical trial design - regulatory requirements, clinical trial readiness, care aspects in clinical trial planning.

The workshop organising committee comprises of Volker Straub, Kanneboyina Nagaraju, Raffaella Willmann, Elizabeth Vroom and Kathryn Wagner.

Participants will have the unique opportunity of participating in a mock TACT review to gain further understating of the TACT process. The workshop takes place on Friday 6th July at the Hilton, Vienna. Places are limited so early registration is essential, you can register here.

For the full workshop agenda, please click here.

Project to Expand the Core Dataset for TREAT-NMD SMA Registries
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The TREAT-NMD Global Network of SMA Registries collect a common, core (minimum) dataset, which was established almost 10 years ago. Under the governance of the TREAT-NMD Global Database Oversight Committee (TGDOC) a project is underway to expand this core dataset to better serve the needs of the current SMA landscape, including to support data collection for post marketing activities. An overview of the project timeline is provided below, and you can contact the Project Manager Jo Bullivant with any questions:

  • 8-9 May 2017: A multi-stakeholder workshop was held to develop a proposed expanded dataset.
  • June 2017: The TREAT-NMD SMA Registries were invited to volunteer to test the proposed dataset and provide feedback on feasibility of data items and ease of implementation.
  • July 2017: A sub-group of 12 SMA registries (the Pilot Group) were issued with the proposed dataset for testing.
  • November 2017 to May 2018: Ongoing feedback is collected from the Pilot Group, and progress is being monitored.
  • May 2018:
    • Individual teleconference calls with each pilot registry to collect and discuss full detailed feedback.
    • Collaboration with other SMA datasets to harmonise data items and data dictionaries.
    • Further consultation with patient organisations.
  • 11-12 June 2018: Pilot registry curator workshop to discuss the collated feedback and make final recommendations to the TGDOC Chairs on:
    • Data items to be included in the expanded SMA dataset.
    • Considerations for the full-scale implementation plan (to roll out the expanded dataset to the wider network of TREAT-NMD SMA registries).
  • 31 August 2018:
    • Expanded TREAT-NMD SMA dataset finalised.
    • Final pilot report and implementation plan complete.
  • September 2018: Reports and plans will be communicated to the full group of TREAT-NMD SMA Registries and the wider SMA community.

The expanded data set is designed and intended to be suitable for use in post-marketing surveillance for all emerging treatments for SMA. We are working with other groups to harmonize data collection and we welcome any and all collaborations. Much of this work has been supported by Biogen.

235th ENMC Workshop - Report
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“The position of the neuromuscular patient in Shared Decision Making”

January 19-20, 2018, in Milan, Italy.

Organizers: Prof Hanns Lochmüller (UK), Prof Aad Tibben (Netherlands), the ENMC Executive Committee and the ENMC office.

The workshop was organised to celebrate the 25th Anniversary of the ENMC. It was attended by 45 participants from 15 different countries: Belgium, Denmark, Finland, France, Germany, Greece, Hungary, Italy, The Netherlands, Poland, Spain, Sweden, Switzerland, UK and the USA. This group represented a wide range of experts: patients and parents, representatives from neuromuscular diseases organisations, clinicians, health care professionals, researchers, societal and policy researchers, psychologists, ethicists, representatives from regulatory authorities and pharmaceutical companies.

In the field of neuromuscular disorders, engaging patients is recognized as a key issue. The ENMC anticipated that for patients and patient organizations, this anniversary, is the time to discuss how and when they want to be engaged in research and how patients want co-creation to further develop. The ENMC has been encouraging patient participation in each of its workshops in the past years. With this anniversary workshop, ENMC aimed to further strengthen patient participation for a set of important domains that are, in many European countries, still predominantly in the hands of researchers and clinicians:

1. Psycho-social support of families going through the processes of screening and diagnosis

2. Transition from child, to adolescent to adult patient

3. Research that has major impact on daily life (nutrition, pain, fatigue)

4. Registries and biobanks

5. Clinical trial design

6. Regulatory and consenting processes.

Shared Decision Making is a model of bilateral interaction between the patient and the clinician, normally applied to find consensus on treatment options. It consists of three phases; option talk, choice talk and decision talk. This practical aspect was used in the workshop to drive the interactive discussion between patient representatives and clinicians/researchers to discuss the level of patient participation and patient involvement in the six fields mentioned above. Note that Shared Decision Making is intended mainly to structure the interactions between stakeholders and was used as a tool to operationalize participation.

Overall, there were common points in discussions. It became clear that education about the involvement of patients up to the level of decision-making requires training and coaching of all stakeholders, including the physicians, health care professionals, pharmaceutical industry, regulatory bodies, people with a neuromuscular condition, the families and patient associations. The roles and preferences of all stakeholders should be made more explicit. With regards to all these stakeholders, it is important to ensure proficient communication about the wishes and challenges we face in implementing patients’ participation at the co-creation level in the various topics addressed. This effort requires changing attitudes, and therefore, ambassadors are needed who inspire and empower others about the benefits of patients’ participation and perhaps at the local level it may need individual coaching. In some of the discussion groups it was concluded that a follow-up meeting or working group is required to delve deeper on how and what to implement to ensure optimal patient participation in that specific topic. Furthermore, it was emphasized that exchange at the European level is also needed. The aims of the workshop are:

1. To create a white paper that positions the patient and patient organizations in neuromuscular disorders as co-creator and co-responsible partner. This document can then be used in discussions with local, regional, national and international stakeholders as well as with fellow patient organizations to achieve endorsement and support for change. In this effort, the role of participants as ambassadors of this change at the local levels and at international organizations, through their networks, will be key.

2. To improve awareness, by disseminating and presenting in the neuromuscular community the outcomes of this workshop and the white paper. ENMC will publish the full workshop report in scientific journals and have the lay report translated in to several languages. Here, the role of patient organizations and clinical centres will be key to set the stage for change and transformation in relation to patients with all stakeholders (researchers, regulatory agencies and industry).

For further information, please click here.

Registries presentation at Hungarian parent project meeting
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Veronika Karcagi presented at a joint meeting organized by the Hungarian DMD and SMA patient organizations. During the meeting, Veronika and Beatrix Palmafy highlighted the important role of patient registries, the importance and success of the global TREAT-NMD SMA and DMD registries and the advantages for Hungarian patients. Dr Beatrix Palmafy spoke about her presentation:

"The importance of these registries is not only to facilitate research but to help to develop care guidelines and monitoring the effect of therapy interventions. I reported about the Freiburg meeting, the TREAT NMD global consortium decision to extend mandatory items with motor scales. I presented slides showing the state of the art global and Hungarian SMA and DMD/BMD registries. I underlined that last year, most likely due to new information and therapy opportunities, more patients joined and more medical data was updated than in former years."

The meeting was attended by DMD and SMA patients and families on 24th March 2018. Presentations covered the following topics:

  • Clinical symptoms and classification in SMA and DMD/BMD, current clinical trials, motor scales, endpoint assessments in upcoming Nusinersen treatment by Agnes Herczegfalvi, paediatric neurologist
  • Genetic background of the different therapy opportunities, eligible criteria, mode of action of the drugs under development for DMD and SMA by Veronika Karcagi geneticist
  • Care of SMA I patients and home ventilation and other supportive equipment by Anita Gergely, Intensive care specialist
  • Role of genetic counselling, family planning and possibilities of secondary prevention (prenatal and preimplantation genetic diagnosis in SMA and DMD) by Laszlo Timar, clinical geneticist
  • Necessity of constant physical rehabilitation of the affected children, supportive aids - Erika Medveczky, paediatric neurologist and rehabilitation specialist
  • Role of the registries. The importance and success of the global TREAT-NMD SMA and DMD registries and the advantages for the Hungarian patients. The extension of the mandatory items with the motor activity scale data by Beatrix Palmafy curator, paediatric neurologist.

You can find out more information about the Hungarian DMD and SMA registries by clicking on the links below:

Hungary - SMA

Hungary - DMD

For more information about the valuable role of registries within the TGDOC network, please click here.

TREAT-NMD Membership Total - Update
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In the December newsletter, the TREAT-NMD Executive Committee invited you to become a TREAT-NMD member. Our membership total has risen to 587 individual members in April! 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.

Myotubular and Centronuclear Myopathy Patient Registry Newsletter
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The new Myotubular and Centronuclear Myopathy Patient Registry Newsletter (Spring 2018 edition) has been published and can be viewed online or downloaded by clicking here. The newsletter is used as a way of informing patients and families, as well as doctors and researchers, of registry activity and other news relevant to the MTM and CNM community.

This edition includes:

  • Overview of the MTM & CNM Patient Registry and registry data
  • Current clinical trial and research activity
  • Potential treatments in development
  • Recent papers of interest

For more information on the MTM & CNM Patient Registry, including how to participate or contribute to future editions of the newsletter, please contact Jo Bullivant or Lindsay Murphy.

2018 Golden Helix Summer School
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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 most important 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 2018 Golden Helix Summer School also offers a social program that includes a visit to the Apollo Theatre in Hermoupolis, and a traditional farewell dinner, allowing participants to get to know each other in an informal way.

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.

RD-Connect Annual Meeting - Report
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RD-Connect held its last Annual Meeting in the current EU funding period. The meeting was held in Athens, Greece on 16-18 April 2018, and was attended by 81 participants, including full and associate RD-Connect partners, as well as guests from collaborating institutions.

The meeting was an opportunity for project partners to discuss the last unresolved issues that needed to be addressed and to look back at what has been achieved until now. At a dedicated session, they looked into the future structure, governance and constitution of RD-Connect and ways to sustain RD-Connect in the future. It was agreed that one of the most valuable outcomes that should be sustained is the unique rare disease research community created by RD-Connect that brings together experts from different fields, clinicians and patients to work for the common goal.

The agenda included sessions addressing other key topics such as the future impact and engagement with major stakeholders, including the European Reference Networks, industry and patient community. At two dedicated sessions, attendees discussed what were the lessons learned from the six years of patient involvement in RD-Connect and how it can be improved in other projects in the future. The members of the RD-Connect Patient Advisory Council used the Meeting as an opportunity to film several patient testimonies that will be later edited and published on the RD-Connect YouTube channel.

Translational Summer School - Limited number of places available!
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This five-day summer school has been developed for researchers and clinicians interested in translational research. This course will address the following aspects as it travels along this established pathway.

  • Bench to bedside research
  • Regulatory system
  • Clinical trials
  • Outcome measures
  • Patient communication
  • Registries and biobanks
  • Biomarkers and –omics

Approximately 24 participants will be based at the Institute for Genetic Medicine, part of Newcastle University in the UK for the duration of the summer school.

During their stay, they will discover how networks such as the European Reference Network EURO-NMD and TREAT-NMD work and collaborate with patients and regulators to facilitate therapy development. Aspects such as standards of care, outcome measure development, biomarkers and others will be developed during the week. Attendees will also learn about the various interactions that take place between key stakeholders.
Attendees will learn how the regulatory system works, take part in a TACT style review and discuss ethical issues in clinical trials.

In addition, attendees will find out about various outcome measures and gain an appreciation of the need for standardisation and training in this area. They will participate in a clinical trial practicality forum as well as a patient communication workshop to demonstrate the results of both good and poor communication.

This comprehensive course will serve as a superb foundation for those wanting to steer their medical or research career in the direction of neuromuscular diseases whilst contacts made as a result of attending will, no doubt, prove to be invaluable.

Attendees who complete this course will not only be furnished with knowledge of the many different aspects that are involved in translational research but will also gain a deeper understanding and compassion for those involved in the whole trial process from researcher to patient. For more information and to register, please click here.

SMA Conference - Germany
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The Deutsche Muskelstiftung (German Muscle Foundation) SMA Conference will take place from 10-13 May 2018 at the Hotel Hyatt Mainz. The focus of the conference will be on ongoing and future clinical trials. Other topics will include news from research, treatment of SMA (ventilation, surgery, physiotherapy), everyday life (kindergarten, school, personal assistance), legal & social issues and donation projects.

Presentations will be given by doctors, representatives from the pharma-industry and basic researchers. Confirmed speakers include: Prof. Dr. med. Janbernd Kirschner, Prof. Dr. med. Peter Claus, PD Dr. med. Hans Fuchs, and Mrs. Bettina Maurer, with more speakers to be confirmed shortly.

To Register or to find out further details, please click here.

FSHD Europe annual members and board members meeting
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FSHD Europe annual members’ assembly and board members meeting took place in Amsterdam on 9-11 March 2018. FSHD Europe was founded in 2010 in the Netherlands and is an association representing the interests of European national FSHD patient’s organisations. As of today, FSHD Europe has six country members: the Netherlands, Italy, France, Germany, UK and (since the beginning of 2018) Spain. FSHD Europe represents the interests of these organisations in relation to its various international stakeholders. During the meeting, the FSHD Europe board members evaluated the achievements over the period of 1.5 years since the last meeting and concluded with deep satisfaction that a lot of work had been carried out:

  • The new improved website was launched
  • Representatives of the board attended various international meetings (Eurordis annual members meeting, Treat NMD conference, etc.)
  • FSHD Europe was actively involved in international activities relating to muscular dystrophies in general and FSHD in particular (World FSHD day, launch of ERN, etc.)
  • One new country member joined the organization - Spain.

New ambitious goals have been created for the coming year:

  • Construct a trusted platform for FSHD European stakeholders
  • Represent patients’ interests with key European organisations (e.g. Treat-NMD)
  • Foster relationships with relevant international organisations (e.g. FSHD Campions)
  • Extend the membership of FSHD Europe and support the development of new local organisations
  • Promote the creation and harmonization of registries.

Board members have also agreed on new improved assignments of the roles and responsibilities within the organisation and expressed their full commitment to make FSHD Europe one of the key stakeholders in promoting and defending the interests of the FSHD patients through Europe and possibly worldwide.

For further information on FSHD Europe, please click here.

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European Conference on Rare diseases (ECRD)

10-12 May

Vienna, Austria

The European Conference on Rare Diseases and Orphan Products (ECRD) is the largest multi-stakeholder gathering in Europe for the rare disease community covering research, development of new treatments, healthcare, social care, public health policies and support at European, national, regional and international levels.

“Rare Diseases 360° – collaborative strategies to leave no-one behind” is the overarching theme of ECRD conference. The theme reinforces the unique quality of this event for the rare disease community in Europe, bringing together and facilitating effective policy discussions between all rare disease stakeholders. It also encompasses the comprehensive range of topic areas covered at the conference and the viewpoint of rare disease patients as equal experts, representing all rare diseases, across borders.

For more information and to register, please click here.


The Euro-Russian Myology Course

16-19 May

Moscow, Russia

The Myo-School of Moscow is jointly organized by Prof. S. Nikitin, Andoni Urtizberea, B. Udd, P. Carlier, H. Goebel, along with the Russian Neuromuscular Society, and more European neuromyologists (from France, Finland and Germany). 150-200 people coming from all over Russia (including the Far-East) are expected to attend this 4-day labour intensive event. This is the 9th event of the same kind organized jointly between Russian and European neuromuscular specialists. The course is not only made of plenary lectures addressing the main topics in neuromyology but also clinical sessions where patient's cases will be discussed collectively

For more information about this event, please click here.


Update in Neuromuscular Disorders

22-25 May

London, UK

This annual 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 about the event, please click here or contact Jacky Bauer.

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27th April 2018
TREAT-NMD newsletter - 27th April 2018
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