New TREAT-NMD Executive Committee Vice-Chair and Patient Representative

LGMD Masterclass Online Event

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New Names for Limb Girdle Muscular Dystrophy

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A new nomenclature for LGMD has been developed for two reasons: the definition of what is LGMD needed an update and the sub-type numbering of the recessive form reached the Z (LGMD 2Z). 

Consensus was reached on a new classification for LGMD, using the letter D and R for dominant and recessive, a number assigned based on the order of discovery and the affected protein. As an example, what has previously been referred to as LGMD 2B will now be known as LGMD R2 dysferlin-related. The new definitions of LGMD relate to the type of muscle wasting, the age of onset and some clinical characteristics. The results have been published in Neuromuscular Disorders.

For patients, the changes may have considerable consequences. Their disease has now a new name and some types of LGMD no longer are considered to be LGMD, whereas some others that were until recently regarded as different diseases now are considered LGMD-types. Thus for patients it is important to know about these changes and understand the consequences. Patients can use the old name as long as they want, but it is practical to know the new name as well, since eventually this classification will become the standard one to use. To understand the changes, a patient leaflet has been developed by a member of the Patient Advisory Board of the European Reference Network for Neuromuscular Disease (ERN EURO-NMD), Madelon Kroneman and the Chair of the Muscle Group of the same ERN, Marianne de Visser, in which changes are explained for a lay audience. The leaflet has been distributed among the members of the Muscle Group and the LGMD patient group. The patient leaflet is available here: 

The patient leaflet is currently available in English only. If you are able to help translating the leaflet into other languages please contact madelonkroneman@gmail.com

PPMD and Duchenne UK Grant Opportunity

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Duchenne UK, a UK-based patient organisation, and Parent Project Muscular Dystrophy (PPMD), a USA-based patient organisation, are pleased to announce the launch of their joint 2020 Research Grant Call and wish to invite research proposals for submission and review.

One million dollars (US$) are committed to fund the best research proposal(s) which support enhancing gene therapy delivery for the treatment of Duchenne Muscular Dystrophy by minimising the immunological issues.

Proposals are invited which will investigate ways to mitigate the immune response both in terms of pre-existing resistance and resistance induced by receiving a gene therapy dose. These may focus on the ‘damping down’ or ‘circumventing’ the immune system itself or may be investigating alternative delivery methods that promote a minimal immune response. It is important to note that if the latter is the focus of a proposal, PPMD/Duchenne UK will only consider methods that can deliver full-length dystrophin constructs or enable robust transfection of satellite cells.

In addition, this call has a relatively narrow remit in terms of the development stage. Submissions ready for, or in, early clinical trials will be favoured although PPMD/Duchenne UK will consider proposals that are in late preclinical stage which show great promise.

Proposals may be submitted from academic groups or from small commercial concerns. In either case, contracting discussions will include shared ROI.
In the first instance send a brief (2-3 page) outline of the project and approximate costs using this template to this address: grantcall@duchenneuk.org by July 21st 2020.

If your proposed project is accepted for further consideration, PPMD/Duchenne UK will send you a detailed submission template which you should complete in full and return.

ECRD 2020 Virtual Conference Success

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The ECRD is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

Although planned to take place this year in Stockholm during May, in common with many other conferences ERCD 2020 moved online. Over 1500 registered participants convened from 57 countries to place rare diseases in the spotlight during this two-day online conference. ECRD 2020 provided the opportunity to co-design policy options today that can lead to better conditions for people living with rare diseases for the years ahead.

The ECRD 2020 theme “The rare disease patient journey in 2030” recognises that the next decade holds great potential for improvement and that while we cannot predict the future, we all have a role in preparing for it. The timing is critical: past policies - such as the 2008 Commission Communication Rare Diseases: Europe’s Challenges and the 2009 Council Recommendation on an Action in the field of Rare Diseases have led to significant successes: the emergence and consolidation of the ERNs; the adoption of a national plan or strategy for RD by 25 EU Member States; a growing number of countries using the OrphaCode; and many other successes. However, there is no policy framework to guide Europe and its countries in rare disease activities for the years ahead. To this end, the Rare 2030 project was established, and this important initiative formed the centrepiece of this year’s ECRD.

As the EU shapes its future policy and spending frameworks, ECRD 2020 served as an opportunity to press the ‘pause button’ and take the time to co-create policy options today that can lead to a better patient journey in 2030 and beyond.

Conference participants heard from world experts on future trends in diagnosis, rights to access healthcare and medicines, care delivery, digital health, the development, assessment and appraisal of therapies and the triple A’s: accessibility, affordability and availability of treatments. ECRD 2020 put a spotlight on emerging trends in best practices, promising technologies and cutting-edge thinking across the six conference themes. As always, Neuromuscular Diseases were well-represented during the plenaries, breakout sessions and poster presentations.

As part of the opening plenary four videos describing possible future scenarios developed by Rare2030 were presented. These scenarios have been developed through the input of a panel of over 200 experts, including patients, clinicians, policymakers, industry and many other key opinion leaders. The scenarios offer alternate futures for rare diseases through the next ten years and beyond. The ECRD audience was asked to comment on these scenarios, to help identify the most likely and most preferable futures. Based on these perspectives, recommendations will be proposed to help guide Europe towards the future our stakeholder wish to see, that will lead to improved policy and a better future for people living with a rare disease in Europe.

Full content from ERCD is still available on demand for one full year until May 2021. If you missed the opportunity to join the live online conference, you can still access recordings of all sessions, resources and posters by registering here.

New Translation of DMD Guide Available

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We are delighted to announce that the DMD Guide for Families to the 2018 Standards of Care is now available in Brazilian Portuguese.

Thank you to the patient organisation Aliança Distrofia Brasil – ADB and to the clinicians for translating this fantastic resource so that the information can be used more widely.

The guide is now available in US and UK English, Brazilian Portuguese, German, French, Ukrainian, Russian, Spanish and Czech. Further languages are in the pipeline and will be announced over the next few months. You can access them on our website here.

If you would like any of the guides printed professionally or require further information please contact our DMD Education Coordinator: clare.bradley@newcastle.ac.uk

World Muscle Society Congress Moving Online

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A decision has now been reached regarding the WMS 2020 Congress due to take place in Halifax, Canada. The WMS Executive Board has decided that they will proceed with a virtual congress on 30th September – 2nd October 2020.

The COVID-19 situation has shown no sign of making the short/medium and longer-term future for events any clearer than it was a month ago and the Executive Board has therefore decided that we will proceed with a virtual congress, in this its 25th year, and plan to resume our face to face meeting next year with the 2021 congress in Prague, Czech Republic and then 2022 in Halifax, Nova Scotia, Canada.

Updates about the programme, and the way in which we will connect and learn as a community for this year, will be revealed on the website in July.

Abstract notifications were sent out week commencing 1st June and we hope to have the full virtual programme available on the congress website in July. Accepted abstracts will still be published in the journal this year. Late-breaking abstract submission will open as usual.

Thank you for your patience whilst we work on the virtual congress organisation. We will update the website with more information very soon.

For more information please contact Clare Beach, WMS Secretariat and 2020 Congress Manager office@worldmusclesociety.org   

Academia Developing Medicines for Rare Diseases are to Receive Free EMA Scientific Advice

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To further encourage the development of treatments for rare diseases, the European Medicines Agency will waive all fees for scientific advice for academia developing orphan medicines.

The academic sector plays an important role in the development of innovative medicines. Their scientific research is often at the source of novel methodologies and innovative medicines with a potential to benefit patients with rare diseases.

Early interaction with EU regulators is important for academia to understand the regulatory requirements and allow the generation of robust evidence needed to establish the medicines’ benefits and risks. This helps them to navigate the regulatory process and ultimately to translate their discoveries into authorised, patient-focused medicines.

However, feedback from academia showed that fees for protocol assistance (scientific advice for orphan medicines) represent a hurdle to engage with the EMA. In light of these findings and the EMA has decided to include academia in the list of organisations eligible for free protocol assistance from June 2020 .

Eligible applicants will include public or private higher education establishments awarding academic degrees, public or private non-profit research organisations whose primary mission is to pursue research, and international European interest organisations. These entities should not be financed or managed by private for-profit organisations in the pharmaceutical sector or have concluded any agreement with pharmaceutical companies concerning their sponsorship or participation in a specific research project for which a fee exemption is sought.

Care Questionnaire Study for the LGMDs - Your Help Needed!

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On behalf of the TREAT NMD Limb Girdle Muscular Dystrophy advisory group, Lindsay Alfano (Children’s Nationwide, Columbus, USA), Kelly Gwathmey (VCU, Richmond, USA) and Rita Barresi (Newcastle University, UK) have developed surveys to distribute to individuals with LGMD or their caregivers to report their experiences.

Additionally, we have surveys for clinicians that diagnose and/or manage the care of persons with LGMD. Our goal is to understand current care practices to help shape eventual Standards of Care for those living with LGMD. The IRB at The Abigail Wexner Research Institute at Nationwide Children’s Hospital in Columbus Ohio has granted study approval. All responses are fully de-identified, and responses will remain anonymous.

Your support is requested in three ways: 
a) Completion of the clinic survey: Please complete the clinic facing survey on behalf of your centre or kindly forward along to the appropriate team member at your site

b) Translation of the patient facing survey:The survey is currently available in English and Spanish only. Please contact Lindsay.Alfano@nationwidechildrens.org if you or a member of your team can help with other languages

c) Disseminate the patient survey: Please pass the link to the patient-facing survey to any interested patients, families, or through any available patient networks

Any questions please contact Lindsay.Alfano@nationwidechildrens.org. 

Further to this the LGMD advisory group is in the process of establishing a working group to develop standards of care for the LGMDs.

Expressions of interest to participate in this working group should be addressed to Jordi Diaz Manera.  These two surveys will inform the work of this working group.Thank you in advance for your support. By working together we can advance care for our LGMD patients.

CureDuchenne Sponsors Academic Applicants Applying for TACT Advice

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Established in 2009, the TREAT-NMD Advisory Committee for Therapeutics (TACT), is a unique multi-disciplinary international group of world-recognized academic and industry drug development experts as well as representatives from patient foundations and regulatory experts, who meet twice a year to review and provide guidance on the translation and development path of therapeutics programs in all rare neuromuscular diseases.

The committee have advised on over 60 applications over 10 years.

CureDuchenne will provide a fund which can be used to support academic applicants working in the Duchenne muscular dystrophy field who want to apply to TACT for advice on taking their therapeutic programme through the clinical trial pipeline. Whilst industry applications make a contribution towards the cost of a meeting, TACT advice is free of charge for academic-led groups. To cover costs, additional support from patient organisations and other groups is therefore vital. The fund will support meeting organisation, and can also be used to cover the costs of travel and accommodation for applicants to attend the face-to-face meeting where their application is discussed.

TACT has benefitted from support from the patient community underlined by contributions to help facilitate meetings from: Action Duchenne, Association Française contre les Myopathies, Cure CMD, CureDuchenne, Duchenne Ireland, Duchenne Now, Duchenne Research Fund, Duchenne UK, Foundation to Eradicate Duchenne, Jesse’s Journey, Joining Jack, Muscular Dystrophy Association, Muscular Dystrophy UK, Myotubular Trust, Parent Project Muscular Dystrophy and SMA Europe. 

Salary costs for the Coordinator to organize TACT meetings and run the review process, are generously supported by Duchenne UK.

Due to Covid-19, TACT meetings in 2020 have moved online - ensuring a proper review process. The next reviews will be on 28 - 29th September and 7 - 8th November 2020. We have one place remaining available on 8th November.

We do hope to be back at face-to-face meetings in 2021 with a meeting planned in Bari, Italy on 1-2nd May. For any questions about TACT, making an application from industry or academia (including accessing financial support), please get in touch with Cathy Turner 

CureDuchenne is recognized as a global leader in research, patient care and innovation for improving and extending the lives of those with Duchenne muscular dystrophy. As the leading genetic killer of young boys, Duchenne affects more than 300,000 individuals living today. CureDuchenne is dedicated to finding and funding a cure for Duchenne by breaking the traditional charitable mould through an innovative venture philanthropy model that funds groundbreaking research, early diagnosis and community education. For more information on how to help raise awareness and funds needed for research, please visit www.cureduchenne.org