Duchenne Data Foundation Successfully Concludes Third Duchenne Patient Academy

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Duchenne Patient Academy is a training platform offering patient advocates from the rare neuromuscular community an opportunity to sharpen their skills. In early December the Academy held a week long training event involving 120 patient representatives from 52 countries.

Highlights from the week included:
• The broader rare neuromuscular community was invited to join the first three days
• The online format enabled participation of young adults with Duchenne
• Topics discussed included research, capacity building, policy & regulations, data, fundraising and clinical trials
• DPA facilitated discussion among all stakeholders to explore new approaches and propose new frameworks for collaboration

Quote from Javier Torras, DPA participant: “It have been 7 days of very interesting presentations with more than 100 participants in every session. I am surprised to see so many Duchenne organizations all over the world involved and the big quantity of high talented people working hard and fighting against this disease. This gives me confidence that the battle to Duchenne will be won sooner or later.”

Speakers Wanted for SMA Workshop

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Do you have any experience of successfully integrating the patient voice into the design and planning of data collection?
• Have you learnt lessons that others could benefit from?
• Can you speak from personal experience about how a patients' direct experience of a disease can complement the clinical and scientific knowledge of other experts?

If this is you, or if this reminds you of someone you know, please get in touch with us before 12 Jan 2021 using the link below.

As part of the SMA Core Dataset work, TREAT-NMD and SMA Europe have identified a need to empower the patient community to become more involved in all stages of data collection related to their neuromuscular disease. We are planning a series of workshops and we are looking for speakers for the first one, tentatively planned for mid-April. The planned outcome of this workshop would be a motivated group of neuromuscular disease patients, who understand their role and the value of their perspective, and are confident and ready to contribute to registry and PROMS development.

If you think you could help by speaking at this workshop, please let us know by completing this short form before Tuesday 12 January 2021.

TGDOC Annual Curators Meeting 2020

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Thank you to all TGDOC Members who attended the TGDOC Annual Curators Meeting held online between 30th November – 2nd December. This years’ meeting was bigger than ever, with 132 registered attendees participating in 24 individual sessions, as well as an online quiz and networking time.

During the meeting, we welcomed Michela Guglieri as the new TGDOC Incoming Chair gave a fond farewell to Nathalie Goemans who has now reached the end of her six years on the TGDOC Chair troika. The entire TGDOC community would like to thank Nathalie for her dedication and hard work over the years and wish her a happy and relaxing retirement.

Special thanks also to our guest speakers Durhane Wong-Rieger (Canadian Organization for Rare Disorders) and Elizabeth Vroom (World Duchenne Organisation) who delivered the ‘Hearing the Patient Voice in Rare Disease Organizations’ session, and also to Jim Hilbert (Rochester National Registry for DM & FSHD) and Marjan Cosyns (Belgian Neuromuscular Diseases Registry) who provided insights into their own registries in the Registry Spotlight sessions.

In addition to dedicated disease subgroup breakout sessions, the meeting also included sessions on the new TGDOC Membership Process and TGDOC Publications Committee, an overview of completed Registry Enquiries and responses to the Registry Review Surveys. Updates were also provided on the Core Dataset projects for DMD, SMA and LGMD, and the Universal Registries Platform (URP) and EMA qualification process.

All sessions were recorded and are available to view on Whova for registered TGDOC Member Registries, and a full meeting report will be circulated in the new year. Please note the session recordings are not availably publicly and can only be accessed by TGDOC Members with a Confidential Disclosure Agreement in place.

Thank you to everyone who has already submitted feedback following the meeting, the feedback we have received so far has been overwhelmingly positive. If you attended the TGDOC Curators’ meeting and have not yet submitted your feedback form it is not too late to contribute, please complete the survey here.

International study on Valosin-Containing Protein Disease

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We are pleased to announce a new collaborative study to characterise Valosin (VCP) related disease. The study is led by Prof. Jordi Diaz-Manera at Newcastle University (Newcastle, UK) in collaboration with Dr. Chris Weihl (Saint Louis, USA) and Dr. Tanya Stojkovic (Paris, FRA). The aim of the study is to better characterize the genetic, clinical, radiological and pathological features of patients with mutations in VCP gene in all its clinical forms: myopathy, motor neuron disease, fronto-temporal dementia, neuropathy and/or Paget bone disease.

We have recently started the study and we are more than happy to announce that we have already collected data from 120 patients from America, Asia and Europe. We encourage you to participate in this fascinating study as we are sure that by working together we could improve the understanding of these disease and the care for VCP patients.

For further information and collaboration please contact:
- Dr Jordi Díaz Manera, Professor of Neuromuscular Disorders, Translational Medicine and Genetics and Honorary Consultant in Clinical Genetics. Newcastle University and Newcastle NHS Foundation Trust.
- Dr Marianela Schiava, Neurologist, Clinical Research Associate. Newcastle University and Newcastle NHS Foundation Trust.

2021 European LGMD Masterclass to be Delivered as a Virtual Event

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Planning is now well under way for the TREAT-NMD 2021 European Masterclass, due to the current situation with COVID-19, a decision has now been made to deliver this Masterclass virtually using a similar format to the highly successful USA LGMD Masterclass that was delivered in September 2020, with excellent feedback from the US and Canadian delegates.

The LGMD expert Masterclass was originally scheduled to be held as an in-person event in Barcelona, it will now be delivered using our interactive virtual conferencing software. The event will be co- hosted by Professor Jordi Díaz-Manera, Professor of Neuromuscular Disorders Newcastle University and as Honorary Consultant Clinical Geneticist with the Newcastle Hospitals NHS Foundation Trust and Michela Guglieri, MD, a Senior Clinical Lecturer and Consultant Neurologist at Newcastle University and Newcastle Hospitals NHS Foundation Trust.

The programme spanning 2 days will include 13 webinar lectures with opportunity for Q&A throughout, the event will close with a choice of 2 highly interactive workshops: Physiotherapy and other Clinical Care Considerations and Exemplary Clinical Cases, in addition delegates will be offered 5 pre-recorded lectures that be made available in the run up the event.

We welcome applications from health care providers from across Europe who diagnose or manage the care of patients with Limb Girdle Muscular Dystrophy (LGMD), places are however strictly limited therefore we suggest applying early to avoid disappointment.

For further details or if you would like to apply for a place on the Masterclass please visit our website.

DMD and LGMD Dataset Project Updates

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LGMD Dataset Update

Great progress has been made with the LGMD Dataset project over the past few months. Three meetings have been held so far with the final purpose of defining the important information to be collected in the LGMD registries. These virtual meetings were attended by different stakeholders including clinical experts, registry curators, patient representatives and pharmaceutical companies and was a success in terms of attendance and participation.
The result of the three meetings is a 44-item dataset. To support this data set we are currently working on the data dictionary.

The challenge of the project has been to undertake the group work required by the project in a virtual way. For the consensus building process, different virtual resources were used to try to imitate as much as possible a face-to-face meeting.

We can only thank all the members of the working group for their participation, enthusiasm, and commitment.

We are organizing the fourth meeting planned for February 2021 when we will review the first version of the dataset and the data dictionary. We look forward to publicising the data set when it is finalised.

DMD Dataset Update

In 2019 a group of Key Opinion Leaders and Patient Representatives (the DMD Dataset Working Group) met in the Netherlands for a two-day workshop, to collaborate, debate and decide on what a new expanded dataset should be comprised of. The outcome of this workshop was a revised, expanded TREAT-NMD DMD Core Dataset, published on the TREAT-NMD website.

In April 2020, the TREAT-NMD DMD Core Dataset Project was launched, with 3 primary objectives:
1 Review the DMD Dataset with Pilot Registries, obtain feedback and modify accordingly
2 Roll out final revised DMD Dataset for adoption and use across all TGDOC (DMD) registries
3 Support the build of a DMD Module on the TREAT-NMD Universal Registry Platform, for registries to use if they wish

The first phase of the project was to create a pilot program for participating pilot registries to review and test the expanded TREAT-NMD DMD Core Dataset. In total, 14 registries from Europe and North America agreed to participate in an 18-week pilot. Pilot registries were asked to answer a number of fundamental questions regarding the proposed expanded TREAT-NMD DMD Core Dataset.

The questions were as follows:
• Which data items in the proposed DMD Core Dataset are registries currently collecting/not collecting?
• How easy/difficult will it be to collect the proposed new items, especially those not currently collected ?
• How easy/difficult will it be for registries to modify their current systems /platforms, so that they can implement the proposed DMD Core Dataset into their current system?
• Would registries be interested in using the TREAT-NMD Universal Registry Platform, as a means of data collection?

Over 2000 items of feedback data were provided by the pilot registries and the results were analysed and presented back to the DMD Dataset Working Group in November 2020. This time however due to COVID-19 restrictions, the Working Group meeting was held as a virtual event. Pilot feedback indicated that just under half of the data items in the new dataset were already being collected and of the new data items, around 75% were rated as very easy - moderately difficult to collect. Data items identified as particularly difficult to collect were considered by the working group and decisions made on each one as to changing its status (mandatory/Highly encouraged/Optional) or removing the item completely.

Lessons learned from the SMA Dataset project were also considered by the Working Group.

There was great progress made on refining the clinically reported registries dataset during the sessions. However, there is more work to do with patient reported registries and so a focus group is being planned to review and agree a way forward on the data set for patient reported registries in February 2021.
We expect to have a final revised version of the DMD Dataset ready for roll out with clinician reported DMD registries across the TGDOC DMD Global Registries Network, during the Implementation Phase starting early 2021. The same will then follow with Patient reported DMD Registries (or combined registries) in Spring 2021

We would like to thank the registries who have participated in this pilot project, for all their hard work and invaluable feedback and look forward to working with all TGDOC DMD Registries as we commence the important Dataset Roll Out & Implementation Phase.

If you represent a patient registry collecting data on DMD and would like to know more about the Global DMD Registry and Core Dataset, or how to access support to implement it, please get in touch with the DMD Core Dataset Project Manager John McKenna or Project Coordinator Janet Wilkins

Duchenne UK’s Project HERCULES Announces the Completion of Phase 1

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Project HERCULES – an initiative set up by Duchenne UK to reduce the time between DMD treatments being developed and reaching patients – has announced the completion of its first phase.

Project HERCULES is a multinational collaboration between pharmaceutical companies, patient organisations, clinicians, academics, regulators such as NICE, and other advisers. It aims to develop the tools and evidence to support Health Technology Assessments and reimbursement decisions for new treatments for DMD. The work has taken 3 years, and researchers have assessed one of the biggest sets of clinical data ever looked at in DMD.

The first phase has seen;
• the creation of a new quality-of-life (QoL) metric for people with DMD,
• a better understanding of the natural history model of the disease which has defined a new ‘transfer stage’ between the ambulatory and non-ambulatory stages,
• an in-depth burden of illness study,
• and the development of an economic model.

Project HERCULES’ works was highlighted at this year’s ISPOR conference (read more here), and Duchenne UK recently held a webinar on the completion of Phase 1.