TGDOC Newsletter – Autumn 2021

The TGDOC Chairs are delighted to invite curators to register for the 14th TGDOC Annual Curators’ Meeting, to be held online between Monday 22nd and Wednesday 24th November 2021 on the Whova platform. 

The meeting is a chance for TGDOC to share knowledge and learn about updates relating to the work of the TREAT-NMD Global Registries Network, and to spend time in discussions with disease-specific subgroups during the breakout sessions. This years’ meeting will include a presentation from the European Medicines Agency, an update and Q&A session on the TREAT-NMD Global Registries Platform, a session providing guidance on registries interacting with industry, and an overview of the new TREAT-NMD Outcome Measures Taskforce, alongside the usual sessions on datasets, enquiries, memberships, and TGDOC plans for 2022. 

Registration is now open; all TGDOC Core and Affiliated Member registries should have received an email with the registration link on 8th October. If you have not received this, please get in touch with Helen Walker as soon as possible. Registration is free, and there are no limitations on the number of attendees from each TGDOC Member Registry. We would encourage as many registry colleagues to attend the meeting as possible, particularly if your registry collects data on all NMDs and you would like to be represented in each disease subgroup breakout session. 

While we encourage all TGDOC Members to attend the meeting live, we understand this will not always be possible for everyone. Please register even if you cannot attend the meeting, as we will provide recordings and reports of the meeting to everyone registered afterwards. If you have any questions please contact Emma or Helen. 

For some time now, our TGDOC Member Registries have stated they would benefit from receiving some financial support to help with registry development. The TGDOC Executive Board have considered how such funding may be possible, fair, and sustainable and have reached a decision to initiate a TGDOC Bursary that registries will be able to apply for. This will start with a Pilot Call for 2022, with the intention to be repeated and implemented further in future years, according to the outcomes of the pilot and availability of funds. The bursary application process will be launched on 1st December 2021; further details will be discussed during the TGDOC Annual Curators’ Meeting.  

These are exciting times for the Limb Girdle Muscular Dystrophy core dataset project. During the summer the project team designed the dataset pilot, proceeded to implement the pilot and analysed the pilot feedback. Pilot results have been presented to the Limb Girdle Muscular Dystrophy working group. Great credit for the design, execution and analysis of the pilot goes to Sonia Segovia who gave her all for the success of this venture.

The success of the pilot very much depended on the willingness of the Limb Girdle Muscular Dystrophy registries to participate in the pilot, submit feedback and involve patients in the process. This was not an easy task to perform during the summer months when the world is on holiday.  We would like to take this opportunity and thank the Australian Neuromuscular Diseases registry, the Canadian Neuromuscular Disease registry, the Coalition to cure Calpain 3 registry, Conquistando Escalones LGMD1F registry, the Egyptian Neuromuscular registry, The German NMD registry, the Global FKRP Patient Registry, the Global Registry of COL-6 related myopathies, LUMC te Leiden and Proycto Alpha for their participation, feedback and enthusiasm.

On the 30^th of September, we held a working group meeting in which the pilot feedback results were presented. Some of the pilot registries participated in the meeting and shared their feedback of the different data items and their pilot experience. The working group then proceeded to voting and deciding which data item will be included in the dataset. The dataset team is currently working on the meeting report which will be published and shared in the coming weeks.

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

The implementation of the Duchenne Muscular Dystrophy core dataset is in full swing.  Since our last update in the summer, we are pleased to inform you that six registries have now implemented the new dataset into their existing platforms. Those registries are:

• The Australian Neuromuscular Disease Registry, ANMDR, implemented the dataset into their platform on the 6^th July 2021.
• The Swiss Registry for Neuromuscular Disorders dataset was implemented on the 15th Jul 2021.
• The German NMD Registry at LMU Munich implemented the dataset into their platform on 2nd Sept 2021.
• The Dutch DYSTROPHINOPATHY DATABASEK at LUMC implemented the dataset into their platform on 30th Sept 2021.
• The REaDY – DMD&BMD Registry in Brno, Czechia, implemented the dataset into their platform on 18th Oct 2021.
• KUKAS at Hacettepe University, Ankara, Turkey, implemented the dataset into their platform on 20th Oct 2021.

These registries have around 3,000 DMD patients between them.

Looking to the future we have been working with a number of other registries on their plans for implementing the new dataset and expect those registries will implement the new dataset in the coming months.

The Global Registries Platform went live with the new Duchenne Muscular Dystrophy dataset on the 28^th of September.  Three Duchenne Muscular Dystrophy registries are now ready to collect v1.2 of the dataset using the TREAT-NMD Global Registries Platform (GRP).

Once registries start collecting data from their patients, they will start to share this with TREAT-NMD as we evaluate the impact of capturing the new expanded dataset. We are looking forward to achieving the same with all TGDOC registries as they start to implement the new core dataset into their existing systems or move to using the Global Registries Platform (GRP) directly, prior to registries sharing data with TREAT-NMD, efficiently and securely within the TREAT-NMD Central Data Warehouse.

If you represent a  registry collecting data on Duchenne Muscular Dystrophy and would like to know more about the DMD 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

As of 22nd October 2021, a total of 55 neuromuscular disease patient registries around the world have TGDOC Membership. A further 8 registries are working through the membership process, another 4 have been newly invited to join the network, and we have been contacted by 5 registries in development who intend to join TGDOC once their registries are up and running.

TREAT-NMD now categorise registries by their level of membership as well as disease areas covered. TGDOC are pleased to announce we now have 31 Core Registries for DMD and 2 Affiliate, 23 Core Registries for SMA and 7 Affiliate, 16 Core Registries for DM1 and 6 Affiliate, and 12 Core Registries for FSHD and 6 Affiliate. In addition, we also have a further 22 Affiliate Registries for LGMD and 23 Affiliate Registries collecting data on Ultra-Rare NMDs.

For more information about TGDOC Membership please visit our dedicated webpage which includes a FAQ document, and contact Helen Walker or Emma Faid if you have any questions.

As part of the overarching Global Registries Platform (GRP) project, we are continuing to make progress.

The SMA dataset went live on 14^th June and the DMD dataset went live on 17^th September and we currently have Registries using the Platform as their main data repository.  The Platform team is continuing to work with Registries in confirming if they are going to be Option 1 users (utilising the GRP directly as their platform for collecting and storing data) or Option 2 users (continuing to use their existing platform/system and transferring data separately to TREAT-NMD).

The  Platform Team are assisting Option 1 Registries with the on-boarding process which includes signing of documentation, training, and access to the system. For Option 2 Registries, the team are collaborating with the Dataset Project Managers and the Registries on the implementation of the dataset to their existing platform and then helping with the Privacy Preserving Record Linkage (PPRL) tool and the transfer toolkit template which will ease the transfer and sharing of data from the Registry to the TREAT-NMD Central Data Warehouse (CDW).

The LGMD feasibility study finished at the end of August and following a LMGD group workshop, the feedback on the dataset and platform was received. Some changes were made to the dataset to reflect the outcomes of the workshop which are currently being amended.  We expect to test the changes during the first week of November. We are looking to go live with LGMD mid November during which time we would on-board any Registries looking to use the platform and LGMD module. This methodology will be the same as the approach to the DMD and SMA dataset modules.

The GRP development project continues as we onboard as many Option 1 registries as possible and following this transition phase (with Option 2 registries implementing the new Core datasets), we look to the Registry Network to further support our development opportunities to support Post Marketing Surveillance (PMS) and Post Authorisation Efficacy Studies (PAES).  This, in turn, will help to accelerate effective treatment for patients and enhance the purpose of the data collected by TREAT-NMD with the support of the TGDOC Registry Network.

If you would like to be involved in testing, offer support or advice in relation to the platform or would like to see a demonstration of the platform please contact Caroline Ogden. We are keen to engage with as many people as possible.

For further information on the Global Registries Platform please visit our website.

The World Muscle Society (WMS) held its 26th Annual Congress virtually on 20-24 September 2021. The conference was a great success and received fantastic support from members, delegates, and sponsors alike with approx 1600 registrations, 400 abstracts submitted, 10 industry symposia and wonderfully positive feedback via our evaluations and direct messages from attendees.

TREAT-NMD displayed several posters at the congress including:

TREAT-NMD SMA Core Dataset; an Important Tool for Postmarketing Surveillance

TREAT-NMD Global Registry Network Development

TREAT-NMD Global Registry Platform Project

TREAT-NMD Core Dataset Expansion Project for Duchenne Muscular Dystrophy

It is hoped that the 2022 will be a fully in-person congress with virtual attendance options –  more information will be made available on the congress website: We will meeting in Halifax, Canada from 10-15^th October 2022 and cannot wait to see all our colleagues and members, new and old there!

For any queries about the WMS, Membership or Congress please contact Clare Beach. office@worldmusclesociety.org

TREAT-NMD are excited to be launching a new educational e-learning platform as of January 2022. The e-learning platform is intended for medical professionals wanting to learn more about the diagnosis, management and treatment of patients with neuromuscular disorders and courses will be free of charge.

The first courses to be released will relate to Limb Girdle Muscular Dystrophy (LGMD) and content will include the diagnostic journey of LGMD, the use of biopsy and best practice for cardiology and respiratory care management. Medical professionals will also be able to learn more about life with LGMD from a patient’s perspective.

More information about the platform will be released at a later stage.

The past few places are available for those who are fastest to register for the third International Conference on Imaging in Neuromuscular Disease.

The conference will take place on the 8th and 9th November 2021 as a live online event. So you’ll need to register before November 3^rd  2021 to be eligible for one of the remaining places.

This year’s conference will be chaired by Pierre Carlier and Hermien Kan and features internationally recognised speakers including Melissa Hooijmans, Werner Stenzel, Dominik Weidlich and Andoni Urtizberea.

The conference programme is spread across two days. Each day is comprised of lectures, debates and poster presentations with awards. Further details about the programme can be found on the website.

Young researchers and trainees are encouraged to attend and participate in the conference. Abstracts will be featured as presentations prior to the live event on the conference app. Delegates will have the opportunity to post comments and questions, then poster pitches will be presented during the live event. Further details regarding submission can be found here.

The third International Conference on Imaging in Neuromuscular Disease is endorsed by the International Society for Magnetic Resonance in Medicine and the European Reference Network NMD.

For sponsorship opportunities contact Clare Bradley.

We are pleased to announce that we have a whole range of educational events in the pipeline for 2022. We are extending our Duchenne Muscular Dystrophy programme to offer a Duchenne Muscular Dystrophy Early Diagnosis Seminar for paediatricians and HCPs who monitor the developmental milestones in babies and young children.

Also coming up in 2022 is the Congenital Myopathies masterclass which will be held in February 2022 and the Limb Girdle Muscular Dystrophy Australasia Masterclass planned for May 2022

You can find extra information about these events on our website and you can register your interest for these events below.

Congenital Myopathies

DMD Early Diagnosis Seminar

We are pleased to inform the entire Duchenne and Becker Muscular Dystrophy community that the 19th International Conference on Duchenne and Becker muscular dystrophy, organized by Parent Project aps, will be held in Rome, at Ergife Palace Hotel from the 17th to the 20th of February 2022.

We are very excited to anticipate that we plan to have a live conference, where scientists, clinicians, companies and above all our families and patients, will finally be able to meet again in person. Live streaming of the event will also be available.

The Conference is a great moment of awareness, information and sharing and this year, more than ever, it will be the symbol of a new start.  As in the past editions, the event will include scientific sessions in order to share all the main updates about research on Duchenne and Becker Muscular Dystrophy, but also a variety of sessions dedicated to everyday life, social and psychological aspects.

While we look forward to bringing together our Italian and international community, we ask to mark the dates on your calendar, hoping to see you all very soon.

New-born screening for Spinal Muscular Atrophy is occurring in numerous jurisdictions and countries throughout the world. It enables early genetic counselling and cascade screening of family members at risk of being carriers for Spinal Muscular Atrophy but importantly, early identification of Spinal Muscular Atrophy provides the best chance of a good outcome for these children through early implementation of treatment.

Whether a child is identified to have genetically confirmed Spinal Muscular Atrophy through cascade screening (perhaps occurring when an older sibling or cousin is diagnosed) or on new-born screening they may not yet exhibit any signs or symptoms of the condition, even when examined closely. The age of onset of Spinal Muscular Atrophy ranges from new-born through to adulthood but the genetic cause is always present and enables identification of Spinal Muscular Atrophy patients before the development of symptoms.

Treatment of pre-symptomatic children means that the signs and symptoms of Spinal Muscular Atrophy (muscle weakness, problems swallowing, coughing, and breathing etc) are much delayed in their onset, much less severe, or do not occur at all.

Including pre-symptomatically diagnosed children in Spinal Muscular Atrophy patient registries is important. The treatments available for Spinal Muscular Atrophy are expensive and the registries play a key role in documenting the outcomes that occur when treatment is initiated early. Such information is highly relevant for regulators and funders, pharma, clinicians, and the Spinal Muscular Atrophy patient community.

Over time these patients will comprise an ever increasing proportion of patients and so establishing the systems required to record their data from an early stage is worthwhile investing in.

If there are barriers to registering pre-symptomatic Spinal Muscular Atrophy patients in the registry in your country please contact TREAT-NMD who may be able to work with you to find solutions.

Reference – recommended reading:

Dangouloff, Tamara, and Laurent Servais. “Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives.” Therapeutics and clinical risk management vol. 15 1153-1161. 2 Oct. 2019, doi:10.2147/TCRM.S172291