TREAT-NMD Supports LGMD Awareness Day

New TGDOC Incoming Chair Nominations now open!

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TGDOC are seeking to appoint a new Incoming Chair to join Anna Ambrosini and Craig Campbell on the TGDOC Chair troika. The global TGDOC Community would like to extend their gratitude to Nathalie Goemans, the current TGDOC Outgoing Chair, who will hand over to the new Incoming Chair at the TGDOC Annual Curators' Meeting on 1-2 December.

The following criteria should be met if possible:

1. Neuromuscular expertise
2. Interest in patient registries / databases
3. Willing to serve as TGDOC Chair for a term of 6 years (2 years as Incoming Chair, 2 years as Chair, 2 years as outgoing Chair)

 Both self-nominations and nominations by others are welcome. If you nominate another TREAT-NMD member, please seek their permission before doing so. All TREAT-NMD Alliance individual Members should have received an email with a link to the nomination form. If you have not received this, please check your junk folder, then contact info@treat-nmd.org as soon as possible. The deadline for nominations is Friday 16th October 2020.

The TGDOC Executive Board will review all nominations, then circulate a shortlist for a vote by the TREAT-NMD Alliance individual members in late October 2020. If you have any questions about the nomination process please contact Helen Walker

LGMD Awareness Day

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The TREAT-NMD Limb Girdle Muscular Dystrophy Advisory Committee are pleased to give you a number of updates on progress on LGMD awareness day. 2020 has been a busy year for this newly formed group.  

In partnership with the TREAT-NMD Educational Committee this past week saw the first LGMD masterclass  with over an amazing 100 participants. Two other reports follow detailing specific activity completed to date the following working groups are in development, with an eye to increasing activity through the end of this year and into 2021.

• John Vissing and Nick Johnson: Diagnostic Best Practices for the LGMDs
• Nathalie Goemens and Volker Straub: Standards of Care for the LGMDs
• Linda Lowes and Anna Mayhew: Outcome Measures for the LGMDs
• Laura Rufibach and Jenn Levy: Patient Advocacy Development for the LGMDs.

There will be specific calls for volunteers to participate in these working groups in subsequent editions of the newsletter as plans develop into concrete activity.

In the meantime we are interested to hear from stakeholders working in the LGMD field and identify opportunities for closer collaboration across this space.

For further information and to discuss opportunities for collaboration please contact TREAT-NMD

New TREAT-NMD Project Ethics Board Vice-Chair

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The TREAT-NMD Executive Committee is delighted to announce that Prof Francesco Muntoni (Dubowitz Neuromuscular Centre) has been selected as Vice-Chair of the TREAT-NMD Ethics Board (TEB) -previously known as the Project Ethics Council (PEC). The current TEB Chair, Elizabeth Vroom, welcomed Francesco and stated “I am pleased that the TREAT-NMD Ethics Board is making a restart and that so many members from the first hour have responded enthusiastically. An experienced committee with members of different backgrounds can make an important contribution to the field of translational research for neuromuscular disorders"

On his new role Francesco stated “I feel privileged to be able to contribute to the TEB. My previous experience with the TREAT-NMD PEC was very insightful. This field is moving very fast, with new technologies and increase industry involvement, which bring new ethical issues that it will be very helpful to discuss in a multidisciplinary forum as the one provided by TREAT-NMD”

New TGDOC Membership Process to be launched in October!

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The work to update the TGDOC Charter, SOPs and processes is now complete, and the new TGDOC Membership Process will be launched on our website in the next few weeks. Thank you all for your helpful input on the documents. Please keep an eye on our twitter feed for the launch announcement.

Please be aware that all current TGDOC registries will need to complete the new Membership Process. We will communicate the new membership process in detail by email to our current TGDOC registries, and in the next TGDOC newsletter to be published on 30th October (subscribe here). Please get in touch with Helen Walker if your registry has any questions.

Duchenne Care Guide for Families Launches Online on World Duchenne Awareness Day

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Online, family-friendly guide to the very latest standards of care is now live at alongside downloadable versions launched in 2019.

Using the updated care recommendations published in the Lancet Neurology in 20181-3 The Muscular Dystrophy Association USA, Parent Project Muscular Dystrophy, TREAT-NMD and the World Duchenne Organisation worked together to produce a current and comprehensive Duchenne Guide for Families ensuring that the very latest in care standards are accessible to all people living with Duchenne muscular dystrophy (DMD).

These guides, in increasing numbers of languages have been made available throughout 2019 and 2020 via the TREAT-NMD website as downloads.

“Having access to the latest, expert-consensus recommendations for how care should be provided has been a powerful resource for our family, living with Duchenne muscular dystrophy. It means we can have better informed conversations with our care-providers about provision of care and become more active participants in managing our sons' care pathway.”  Alex Johnson, Duchenne UK

TREAT-NMD is delighted to announce that the Guide is now also available as an online version designed especially to work across all devices. The previous, 2010 web-version was developed by Professor Jan Kirschner and his team in Freiburg and we are extremely grateful to them for establishing this highly successful and popular format. TREAT-NMD have adopted this same approach and have developed the same for the 2018 recommendations to replace those from 2010.

 “Having published standards of care in an effort to optimize care for all people living with Duchenne around the world, these guidelines inform clinicians as well as families about the care needed and expected across the lifespan of Duchenne.

In addition, standardizing the medical care received by clinical trial participants will help strengthen outcome measures, ultimately speeding up the time to approval for new therapies and access to them. PPMD is excited to be an integral  part of this update to the standards of care.” Kathi Kinnett, Parent Project Muscular Dystrophy

The content is the same as in the printed version of the guide for families but we hope will be accessible to more people in this user-friendly format. This launch, to coincide with World Duchenne Awareness Day is for the UK-English version but other languages will be appearing over the coming weeks.

If your language is not yet represented and you are interested in working with us to provide translations, please do contact Clare Bradley or Elizabeth Vroom.

TREAT-NMD Universal Registry Platform Development Project Underway

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For a number of years now TREAT-NMD has been planning the development of a Universal Registry Platform (URP) and the project recommenced on 12th August 2020.

The URP will initially contain DMD and SMA modules which will be designed to capture the agreed TREAT-NMD Core Datasets for these diseases. A Central Data Warehouse (CDW) will also be developed to house the data from the datasets and other data received from TGDOC Member Registries who are not using the URP directly. The project is being developed in stages, also known as ‘sprints’, and is starting with the URP Clinician Portal which is expected to be complete by December 2020. A Patient Portal is also being developed for the URP and will be complete by March 2021. There is a desire to add a LGMD module to the URP in 2021 and other rare disease modules in the future, in line with the development of the TREAT-NMD Core Datasets for these diseases.

It’s an exciting time for TREAT-NMD and the global TGDOC registries involved in this initiative. We will be encouraging registries to test the URP when it is built and we are looking forward to the next few months, where many years of planning will become a reality.

For further information on the URP or to participate as a ‘test registry’ then please contact Caroline Ogden, the URP Project Manager - caroline.ogden@treat-nmd.com

Care Questionnaire Study for the LGMDs - please complete!

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Thank you to those of you who have started to complete the LGMD care surveys.  So far there are 126 clinic surveys in progress, but only 33 completed in full. It would be wonderful if those of you who have started this survey could mark LGMD Awareness Day by creating a window in your diaries to complete the survey in the next few weeks.

As reported in the June issue of the TREAT NMD newsletter, on behalf of the TREAT NMD Limb Girdle Muscular Dystrophy advisory group two surveys have been developed with the goal of understanding current care practices to help shape eventual Standards of Care for those living with LGMD.

The clinic survey is aimed at clinicians that diagnose and/or manage the care of persons. The patient survey aims to give patients and their care givers the opportunity to report their experiences.

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.

We would especially like to thank the many volunteers who have supported with translations of the patient surveys in response to our request for help in the previous newsletter. Additionally to the English and Spanish, this patient survey will shortly be available in Portuguese, French, Dutch, Korean, Ukranian and Russian (pending IRB approval).  There are currently 611 completed patient surveys in English and Spanish.  Thank you also for your continued support disseminating this survey. Any support with other languages would be gratefully received.

Any questions please contact Lindsay Alfano

Thank you in advance for your support.  By working together we can advance care for our LGMD patients.

LGMD Core Dataset Development Project

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As part of the TREAT NMD LGMD action plan, we are moving forward with the development of the TREAT - NMD Core Dataset for LGMD registries. In the last few months, this activity has been gathering momentum.

The Core Dataset will be agreed over the course of 4 virtual meetings. On September 17th, the first meeting was held, 35 participants from different fields worked together to define the objectives for the LGMD registries.

The meeting was attended by different stakeholders including clinical experts, registry curators, patient representatives and pharmaceutical companies and was a success in terms of attendance and participation.  Each stakeholder group presented the main aims of a LGMD based on their interests and priorities. The amount of consensus between the groups was striking and provides a solid base to move forward to the definition of the core data set over the remaining meetings. The next two meetings will define the data set and review its feasibility while the final meeting will focus on implementation planning.

This project also focuses on building a community of LGMD stakeholders. This community is key to the success of this project and all the actions developed in the TREAT-NMD in this field. If you would like to be informed about the further development of this initiative, please contact Sonia Segovia

DMD Expanded Core Dataset Project Update

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Recognising a need to update and develop the existing Duchenne Muscular Dystrophy (DMD) Dataset collected by TREAT-NMD allied registries, a DMD Dataset Working Group consisting of key opinion leaders and registry curators from around the world, met for a two day workshop in Amsterdam in June 2019 to develop a new expanded core dataset (ECD). Version one of the ECD was agreed and finalised in April 2020.

Since then funding from Sarepta Therapeutics has been agreed, allowing a project team to be recruited. In addition,13 registries from Europe, the US and Canada have offered their services and joined a pilot group, undertaking the following activities as part of the DMD ECD Roll Out Project:

• Undertake a gap analysis of the ECD vs the current data set collected by pilot registries
• Identify expected challenges of integrating the ECD into registries’ current platforms
• Establish the feasibility or ease with which the ECD data items can be collected, for either a clinical/curator entered or patient entered registry
• If/when integrated, providing feedback on the actual challenges faced by registries when the ECD was integrated into their current platforms

This important project continues to make progress towards the completion of the pilot phase – due to end on 31st October 2020. As the project Principle Investigator, Dr Michela Guglieri commented in a recent email to participating registries:

“… we are delighted to report that, just over halfway through the project, we have almost half of all feedback in – thank you so much to all your efforts so far. The input from participating registries is already extremely valuable …We are now planning for a November workshop with the DMD dataset working group to review the feedback…”

The participating registries in the DMD Dataset Working Group are:

• Belgian Neuromuscular Diseases Registry (BNMDR)
• Italian Registro Pazienti DMD/BMD Italia (Parent Project Italy)
• German DMD/BMD Registry
• Swiss Registry for Neuromuscular Disorders
• UK DMD Registry (Action Duchenne, UK)
• Spanish Registro de Pacientes Duchenne y Becker España
• Czech Ready Registry Czechia
• Canadian Neuromuscular Disease Registry
• American United Dystrophinopathy Project Registry USA
• American Parent Project Muscular Dystrophy (PPMD) USA
• Dutch BMD/DMD Patient Registry
• Bulgarian Patients’ Registry for Neuromuscular Diseases
• Serbian DMD Patient Registry of Serbia
• Ukrainian Duchenne Muscular Dystrophy (MIO Life)

If you would like further information on the project, please contact the Dataset Project Manager John McKenna   

Special Issue of JND ‘The Null Hypothesis Stands’

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The Journal of Neuromuscular Diseases (the journal affiliated to TREAT-NMD) will have a special issue called 'the null hypothesis stands' with guest editors Annemieke Aartsma-Rus and Virginia Arechavala-Gomeza.

This issue calls for papers in the muscle field where results were not as expected, or where replication studies failed. Often we call these results 'negative results' - however, disproving a hypothesis is also important to move science along and failure to publish on something that does not work leads to unneeded replication, while not publishing failed replication studies leads to unnecessary work and prioritization.

JND welcomes submissions for this issue before March 31st 2021.For more information contact: Annemieke Aartsma-Rus, Professor of Translational Genetics, Dept of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, the Netherlands. Tel +31 71 526 9436.

JND offers a 50% reduction in open access fees for this issue. Furthermore, generous sponsorship from Parent Project Muscular Dystrophy and Duchenne Parent Project Netherlands, will reimburse open access fees for authors publishing in this issue on Duchenne muscular dystrophy.

Call for TREAT-NMD Advisory Committee for Therapeutics (TACT) Reviewers

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The TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary international group of academic and industry drug development experts, as well as patients and their representatives and regulatory experts. TACT meets twice a year to review and give objective advice on the translational and development pathway of therapeutic programs in rare neuromuscular diseases. Since its establishment in 2009, over 60 applications have been reviewed, covering several conditions including DMD, BMD, SMA, LGMD, FSHD, congenital myopathies and Pompe disease. In addition to the core group of reviewers who attend every meeting, members of the TACT extended committee can be called upon depending on the expertise required and asked if they are able to review applications and attend a TACT meeting. Such expertise can include drug discovery research, preclinical assessment of animal and cellular models, pharmacology, toxicology, biostatistics, regulatory considerations, clinical care and research, ethics, patient advocacy and funding of development programmes.

With new technologies and treatments emerging, and a wide range of applications received for different disease areas, the TACT core committee and chair would like to invite expressions of interest to join our extended committee of reviewers. If you are interested in becoming a TACT reviewer, please contact Joanne Lee and provide a short summary of your expertise, including why you would be interested in joining TACT. To find out what is expected of a TACT reviewer, please click here.

For more information about TACT and to review the list of current reviewers, please click here.

Global Registry for COL6-Related Dystrophies Website Now Live!

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We are pleased to announce that the new Global Registry for COL6-Related Dystrophies website is now live. 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 registry team is based at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and is part of the TREAT-NMD Global Registries Network. 

Click here to view the website and register. 

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. For the contents of Volume 7, Issue includes two open access reviews – one on hereditary myopathies and another covering skeletal muscle progenitors and stem cells – plus 11 research articles and other reports. To be kept up to date with all of the latest JND news, sign up to the journal’s newsletter.