Outcome Measure Library for SMA Reported  Registries

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The TREAT-NMD SMA Dataset team have produced a quick-reference tool to help SMA patient registries choose and implement the right outcome measures for their patients. 

The Outcome Measure Library includes all validated outcome measures currently in use for SMA, to our knowledge, including those listed in the TREAT-NMD SMA Dataset. The aim of this resource is to support independent decision-making on which outcome measure is most suitable for the individual being assessed. 

The Library contains the following information (where available) for each outcome measure:
• Type of OM (Motor or PROM)
• Suitable age range / level of function
• Available languages
• Terms of use
• Link to scales 
• Link to manual
• Training required
• Average time needed per patient
• Equipment needed
• 2 Key references
• Notes or further information

Users of the Outcome Measure Library are welcome to provide feedback on its usefulness, any missing information or any additional outcome measures or PROMS, used for SMA, that should be included. Feedback can be provided by completing this online feedback form.

The Outcome Measure Library is publicly available on the SMA Dataset Project page of the TREAT-NMD website.

Hello from the TREAT-NMD Secretariat!

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A warm welcome to our new Secretariat Team members, a number of whom are new employees of the TREAT-NMD Enterprise. These new members will be managing projects, dealing with enquiries and handling day to day queries. They will work with the existing Secretariat with the ever-increasing number of TREAT-NMD activities required to support the TREAT-NMD Global Membership Alliance and associated rare disease communities.

Annemieke Aartsma-Rus say “The executive committee of TREAT-NMD is very appreciative of the competent and profession support provided by the secretariat and we welcome the new members.”

Please see the TREAT-NMD Secretariat webpage for further information, including contact details for individuals and links to specific project pages.

New Nomenclature For LGMD

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In the June edition of TREAT-NMD Newsletter we reported on work which led to the development of a new nomenclature for LGMD. We provided a link to Neuromuscular Disorders where the results have been published but not to the specific article. We apologies for this and if you would like to read the full text (Straub et al, Volume 28, Issue 8, 2018, Pages 702–710) you can do so here.

WMS 2020 Virtual Congress and Teaching Course

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The 25th WMS congress would have taken place in Halifax, in Canada, at the end of September this year and the neuromuscular community was looking forward to this special anniversary meeting. Unfortunately, a single-stranded RNA virus of 50–200 nanometres in diameter that is contagious in humans has impeded our Nova Scotia get-together and the WMS Executive Board had to come up with an alternative plan. It was felt that the WMS meeting should not just be cancelled and that the neuromuscular community wants to experience education, enjoyment and excitement – especially at a time when these activities, which reflect such important components of our congresses, are repressed by restrictive lockdown measures.

The decision is to go ahead with a virtual conference, a first for the WMS. Our congresses have been threatened in the past by major events, floods and earthquakes; they caused us to move dates and venues, but the WMS meetings always took place. The current pandemic forces us to organise an online meeting, but most importantly, the meeting will still provide a multidisciplinary scientific forum to advance and disseminate knowledge in the neuromuscular field, with opportunities for students, postdoctoral fellows and young investigators to present their research findings and for everyone to engage in discussions and to establish new collaborations.

The WMS 2020 Virtual Congress will now be held virtually between 28th September – 2nd October 2020. Please visit the congress website for more information.

Our programme committee has done a fantastic job to come up with an exciting scientific programme and the quality of the 400 submitted abstracts on all aspects of neuromuscular disease has been outstanding. We will enjoy panel sessions, oral lectures and poster presentations through a virtual conference centre and a range of stimulating industry symposia on a dedicated day. Everything will then be available on demand for 3 months for registered attendees to continue viewing. The WMS teaching course will also go ahead and we encourage everyone who is interested to register and participate.The Pre-Congress Teaching Course will be held virtually on 29th September 2020. Please see the website for further details.

If you have any queries please contact Clare Beach, WMS Secretariat and 2020 Congress Manager.

Spanish Translation of the Duchenne Muscular Dystrophy Guide for Families to the 2018 Standards of Care Now Available

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We are thrilled to announce the guide for families based on the 2018 Standards of Care for Duchenne Muscular Dystrophy (DMD) is now available in Spanish. Thank you to the patient organisation Duchenne Parent Project Spain and to clinicians at Hospital Sant Joan de Déu in Barcelona for translating this brilliant resource so it can be used more widely.

This Family Guide is now available in US and UK English, Brazilian Portuguese, German, French, Ukrainian, Russian, Spanish and Czech with more languages coming in the next few months. You can access them on our website here.

If you would like to find out about printing any of the guides or require further information please contact our DMD Education Coordinator Clare Bradley.

Duchenne Parent Project Netherlands Organizes Week-Long Duchenne Festival.

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From June 27 – July 4, the Netherlands Duchenne Parent Project (DPP NL) hosted a week-long online Duchenne Festival. This event replaced the annual Dutch Duchenne Day that could not take place in its original form due to the COVID-19 pandemic. During this week filled with multiple evening sessions, DPP NL was able to combine almost everything Duchenne families indicated to be important to them, including updates on research and care by experts, exchanging experiences on topics from everyday life with other parents and peers and having some fun and social interactions.

The format of this Duchenne Festival was different than usual conference setups. Instead of running the full program in 1 long day, interactions were planned throughout 8 days with shorter sessions. Duchenne families, carers and researchers enjoyed the conference from the comfort of their own homes, subscribing to online sessions tailored to the needs of the Dutch Duchenne community.

A new component was the separate sessions organized and led by young men and adults with Duchenne, while parents led their own sessions. Specific sessions could only be joined by individuals with Duchenne themselves.

On the last day, the Grand Finale took place containing a wrap-up of the week and a presentation on neuropsychology by Dr. Jos Hendriksen. This was followed by an interactive live session with Prof. Dr. Annemieke Aartsma-Rus, Dr. Jan Verschuuren, Dr. Jos Hendriksen and Dr. Imelda de Groot about what needs to be done in the next 5 years for Duchenne patients. All experts are members of the Duchenne Center Netherlands.

Over 500 individuals registered for the different sessions, everyone could register per subject and participation was free. Sessions open to everybody interested included updates on research, clinical trials, care and physiotherapy. Please see the DPP NL website here for further information, including the program, videos and presentations.

Elizabeth Vroom, chair of DPP NL is looking back on the festival contented: “It was nice to see we were able to attract many more young people than in the traditional setting and have the opportunity to continue with follow up sessions on certain subjects during the year as asked by the participants. We received super positive scores and responses from the participants ‘a very informative and cheerful week’, many said ‘please do this again’ and for sure: we will.”

Postponed ICNMD Goes Digital

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The ICNMD International Congress on Neuromuscular Diseases is organized on behalf of the Neuromuscular Disorders Applied Research Group of the World Federation of Neurology.

For those who planned on attending the 16th ICNMD in Valencia this year, the organising committee postponed this until 2021. However, the organisers have launched a taster event ICNMDigital taking place between the 11th-14th September 2020. Registration is open priced at 50 euros for a single day, or 100 euros for full access. Click 'Read More' for further information.

Patient Centered and Interoperable Registry Hub for Rare Neuromuscular Diseases

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EURO-NMD, ERN for Rare Neuromuscular Diseases, spans 14 European countries, with 61 reference centres that oversee more than 100,000 patients. Core objectives are the implementation of clinical practice guidelines and the definition and monitoring of core indicators of guideline conforming management, treatment quality and patient health outcomes.

Partners involved in the hub include; Assistance Publique Hopitaux de Paris, Universitaetsklinikum Freiburg, Stichting Katholieke Universiteit, World Duchenne, Organization, Duchenne Data Foundation, Association Institut de Myologie and the Association Francaise Contre Les Myopathies

Patient registries are key instruments for the ERN to be able to deliver its objectives. A recognised challenge for rare diseases is the heterogeneity of legacy data sets and the multiplicity of existing registries. EURO-NMD health care providers and patient organizations are currently active in more than 120, mostly disease specific and patient run registries. While the existing registries are collecting important information, none of them is used by all EURO-NMD centres and there is no unified NMD or NMD Disease Specific Registry in EU.

The general objective is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and connect with the existing ones. The EURO NMD Registry Hub will use internationally agreed, state of the art concepts such as being built with a system that will collect standardized common data elements, defined by the Joint Research Center (JRC).

It will be registered in the JRC’s meta-registry platform ERDRI, will allow for the generation of a Privacy Preservation Record Link (PPLR) through the EUPID system, it will use internationally accepted ontologies (HPO) and ORPHA codes for codification of the diseases. Development of a registry hub that will allow linking and extraction of data from different sources. Thus, the data collected through the registry hub will be Findable, Accessible, Interoperable, and Reusable (FAIR).

The registry hub will offer the unique opportunity to the fragmented NMD communities and their HCPs, Centres, Patients and Patient Organizations to be able to communicate between them and exchange knowledge, experience and news.

Brain Involvement iN Dystrophinopathies (BIND)

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Brain Involvement iN Dystrophinopathies (BIND) is a large international project to study dystrophin in the brain in Duchenne and Becker muscular dystrophy.

The BIND project is the first project of this scale to address the characterisation of brain involvement in Duchenne and Becker Muscular Dystrophy (DMD and BMD respectively), a previously overlooked field. This EU-funded project connecting 19 partners aims to address this crucial neurological aspect of DMD and BMD that was already recognised in 1861, when Duchenne de Boulogne first described the neuromuscular condition. In the last few decades however, most of the efforts have focused on improving outcomes related to muscle weakness, whilst brain involvement has received less attention. 

The BIND project’s ambition is to elucidate the role of dystrophin in the brain. This protein is deficient in DMD and only partly functional in BMD. The project aims to develop new outcome measures that could inform the field for future clinical trials and will promote more rigorous assessment and intervention of brain comorbidities. The ultimate goal of this project is to improve understanding of dystrophin’s functions in the brain, thus working towards better treatments, care and outcomes for all those living with DMD and BMD.

Most clinical experts are aware of the occurrence of brain comorbidities in a proportion of individuals affected by DMD and BMD. These X-linked recessive disorders are the result of absent or partly functioning dystrophin protein in muscles and brain. Improved standards of care and novel therapies have greatly improved the quality and quantity of life for DMD and BMD patients over the past decade.

BIND's goals include:

• Identifying brain regions that express dystrophin in the adult and developing brain to better understand their function;
• Identifying brain comorbidities that could be corrected with a postnatal treatment intervention;
• Defining the spectrum of brain comorbidities in DMD and BMD individuals, and how to best assess them;
• Creating optimal and uniform outcome measures to assess brain comorbidities in DMD/BMD

BIND's objectives include:

1. Increase awareness in clinicians about brain comorbidities in DMD/BMD so clinical practice can improve.
2. Making it easier (if not automatic) for DMD/BMD individuals to be referred to specialists who can help families cope with these brain aspects of the disease.
3. Develop clinical assessment tools that are specifically tailored to DMD/BMD individuals to help them get the adequate support in the health care system.
4. Support the advancement of treatments aimed at the brain.

New Issue of Journal of Neuromuscular Diseases Published

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A new issue of Journal of Neuromuscular Diseases (JND) has been published. The journal 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. The contents of Volume 7, Issue 3 includes an open access review on gene size in the diagnosis of skeletal muscle disorders, plus articles on Spinal Muscular Atrophy, gene therapy, laboratory tests for work-up of hereditary and acquired neuropathies, and more. To be kept up to date with all of the latest JND news, sign up to the journal’s newsletter.

World Duchenne Awareness Day 2020: Together We Are Stronger

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The Covid-19 pandemic is having a strong impact on the life of every single individual and family, modifying our time and habits. It changed our daily life globally, but it cannot delete our projects and our voice. The Duchenne Community know very well what it means to live in moments of isolation, to face emergencies, to adapt our daily lives to clinical care. We know the meaning of specific words like ‘fear’, ‘pain’, and ‘distance’ but at the same time we are trying to turn ‘fear’ into ‘hope’, ‘pain’ into ‘resilience’ and ‘distance’ into ‘closeness’.

For this reason, we have decided to share an important message globally linked to the general awareness of WDAD2020, a message that many people have experienced and are still experiencing this year: together we are stronger. We can be stronger only together during a global pandemic. But we can be stronger together every day even when the emergency will finish. Because our cause will still be there, our engagement will still be there and we need every single person to be involved. So, let’s raise our voice and work on the general awareness of WDAD2020. With our strength and creativity, let’s make a difference!

• Promote the new WDAD2020 video
• Illuminate your cities
• Contact your local media
• Promote digital action
• Digital balloons

Please see the World Duchenne Day website for further information about how you can participate in the 5 steps listed above. For questions and ideas regarding the general awareness of WDAD2020, please contact Nicoletta Madia and Suzie-Ann Bakker.

International Summer School on Rare Disease Registries and FAIRification of Data

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I am glad to inform you that we have organized an international training course on Rare Disease Registries and FAIRification of Data. The course, titled "International Summer School on Rare Disease Registries and FAIRification of Data”, ISS, Rome, Italy, will be held ONLINE from 28th September to 2nd October 2020.

This initiative is a part of a series of training courses included in the framework of the European Joint Programme on Rare Diseases (EJP RD). EJP RD is a EU funded project that counts ISS among its partners. The aim of the project is to “create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation”.

The 5 days training course is composed of two modules, the first three days on Rare Disease Registries and the final two days on FAIRification of Data.
It is possible to attend the single training module or the entire training course.

The course is open to the international research community, to clinicians, to medical specialists and to registry curators, database managers, healthcare professionals and rare disease patient representatives.

Online registration for this training has now closed. Please contact EJP RD directly for further information on the courses and registration.