Success For The First TREAT-NMD Virtual Masterclass

TGDOC Updates

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There are lots of exiting updates from TGDOC this month, summarised below. For more detailed information on the activities of the TREAT-NMD Global Registries Network, dataset projects and Universal Registry Platform, please also sign up to receive the TGDOC quarterly newsletter here.

TGDOC Chair Election

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 2020. Nominations have now closed, and the shortlisted candidates are confirmed as Michela Guglieri, our current TGDOC LGMD Subgroup Lead, and Rasha El Sherif, our current TGDOC Publications Committee Chair.

An email containing further candidate information and the voting link will be sent to TGDOC Member Registries on Monday 2nd November. All votes must be submitted by no later than midnight (GMT) on Monday 16th November 2020. 

New TGDOC Membership Process is now live!

Following a summer of reflection and consultation with the TGDOC community and TREAT-NMD Executive Committee, we are now pleased to announce that the new TGDOC Membership Process was launched on Monday 19th October 2020. All new and existing TGDOC registries should download and complete the TGDOC Membership Pack as soon as possible. Existing TGDOC Registries should aim to complete and return the new Membership Pack before the deadline of 31st December 2020.

TGDOC Annual Curators’ Meeting 2020 – Registration now OPEN!

The TGDOC Chairs are delighted to invite TGDOC registry colleagues to register for the 13th TGDOC Annual Curators’ Meeting, to be held online between Monday 30th November and Wednesday 2nd December 2020. The meeting is a chance for TGDOC to share knowledge and learn about updates relating to the work of the TGDOC community. Registration is free, and there are no limitations on the number of attendees from each registry. TGDOC Registry Curators will have already received the registration link, if you are interested in attending and would like further information please contact Helen or Emma.

TREAT-NMD at World Muscle Society 2020 (WMS)

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TREAT-NMD was delighted to have our booth at the WMS Exhibitors’ Area online last month. Members of the Secretariat welcomed and chatted with visitors and we are now following up some interesting new possible collaborations. We also enjoyed visiting the poster sessions, watching the online programme and, of course, the WMS Quiz!

Many TREAT-NMD Committee members took part in the conference programme as speakers. One particular highlight was a Panel Discussion featuring members of the TREAT-NMD Advisory Committee for Therapeutics (TACT): “Pre-clinical requirements for novel neuromuscular therapies.”

Facilitated by Jim Dowling and with talks from Annamaria De Luca, Nic Wells, Kanneboyina Nagaraju and Jenny Morgan, this session highlighted the utility of pre-clinical models in drug development for NMDs. The panellists described the importance of robust, reproducible preclinical data following TREAT-NMD standard operating procedures (SOPs) to improve their predictive reliability for human clinical trials. Key aspects and innovative solutions of toxicology pre-clinical tests were also discussed. Towards the end, participants were even treated to a guest appearance from Jim Dowling’s cat – perhaps having overheard discussion and live questions about the mdx mouse!

Current Chair of TACT, Annamaria De Luca described recently published research  based on 10 years of TACT reviews that shows that there is still often weakness in pre-clinical packages that are presented to the Committee1. She explained how this underlines the vital importance of early, expert advice and identification of key challenges, frequent pitfalls, ways to improve and de-risk.

What is TACT?
TACT provides independent, multidisciplinary, world expert guidance and advice to NMD therapy development plans from academia or industry with an overall aim to de-risk clinical trials. Over 10 years, the group have offered this advice on over 65 programmes across many different NMDs.

If you are interested in keeping up to date with TACT meetings and initiatives, you can sign up to receive updates 

For more on how to ask TACT for advice on your programme, whether it is at an early pre-clinical stage, or whether you are already in trials, contact the TACT Coordinator: Cathy Turner 

SMA Core Dataset: Version 2 and Project Report

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On Thursday 15 October we released version 2 of the expanded TREAT-NMD SMA Core Dataset. This followed extensive consultation across the SMA community and generated over 650 initial feedback submissions.  This excellent level of engagement from the community has helped us to shape version 2 into a better-quality dataset to support accurate and standardised data collection throughout the SMA Global Registry, whilst allowing greater flexibility for conforming registries to collect the data in a way that suits them.

The version 2 dataset can be browsed online or downloaded.

Significantly different to version 1, the most significant changes lie in the presentation and description of the data.  The content (that is, the data we would like registries to collect) has not been drastically altered.

Although we have of course been unable to accommodate all feedback received, we have carefully considered each suggestion and recorded each decision and outcome.  We will be making this information available as soon as possible through our project webpage.

The phased implementation of the expanded SMA Core Dataset across the TREAT-NMD network of registries is now in year two of a three-year project. Our Year 1 Project Report outlines our progress to date and plans for year 2.  Key findings from the report include:

• 43% of patients in 18 Pilot and Year 1 registries are now covered by the expanded dataset (v1).
• Average compliance rates are 98% for mandatory items and 90% for highly encouraged items.
• Disease modifying therapies are available to patients in 17 of the 18 registries.
• A natural consensus appears to be emerging across the registries on the most appropriate outcome motor measures to collect for different patient cohorts.

We are grateful to everyone who took the time to review and comment on the dataset, and to contribute to the Year 1 Annual Report.  

 If you represent a patient registry collecting data on SMA and would like to know more about the Global SMA Registry and Core Dataset, or how to access support to implement it, please get in touch with Project Manager Jo Bullivant or Project Coordinator Joanna Das.

DMD Core Dataset: Project Update

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

Following this, in April 2020, the TREAT-NMD DMD Core Dataset Project was launched. The first phase of the project was to create a pilot program for registries to review and test the expanded TREAT-NMD DMD Core Dataset.

In total, 13 registries from Europe and North America participated in an 18-week pilot, where they answered questions regarding the proposed expanded TREAT-NMD DMD Core Dataset. 

The questions were as follows:

• Which items in the proposed DMD Core Dataset are registries currently collecting/not collecting?
• How easy/difficult will it be to feasibly collect these items?
• 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?

The data provided by the pilot registries has been collected and collated, and the results will be presented back to the DMD Dataset Working Group in November who will use the information to inform their decision on the next revised version of the TREAT-NMD DMD Core Dataset.

The project team is expecting to publish the new revised dataset in December 2020. 

The next step for the DMD Core Dataset Project, is to roll-out of the revised DMD Core Dataset across the TGDOC DMD Global Registries during the Implementation Phase.

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 Implementation Phase

If you would like further information on the project, please contact the DMD Core Dataset Project Manager John McKenna    or Project Coordinator Janet Wilkins 

Free online training available in the North Star Assessment for Limb Girdle Type Muscular Dystrophies

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We are pleased to announce that the John Walton Muscular Dystrophy Research Centre will be holding a free online training workshop, aimed at demonstrating the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD).

The NSAD is a measure of motor performance suitable for assessing individuals with a diagnosis of limb girdle muscular dystrophy or who present phenotypically with limb girdle involvement. The NSAD is suitable for ambulant and non-ambulant patients and may be conducted alongside the Performance of Upper Limb Scale (PUL 2.0). The scale can be used in adults and children once they are developmentally mature (around 4 years of age).

This training session will be held on Thursday 12th November 2020.The workshop will include a practical demonstration, and is aimed at therapists from around the world working in clinics, and clinical trials, and is open to all to register. After the workshop, participants should be able to confidently practice and then administer the NSAD scale.

To secure your free registration for this workshop and to view the agenda, please click here. If you have any questions about the workshop or would like more information, please contact Anna Mayhew   

conect4children needs you!

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conect4children (c4c) is a large, pan-European network, which aims to facilitate the development of new drugs and other therapies for the entire paediatric population. One of the main goals of the Patient Parent Involvement (PPI) cross-cutting theme of the c4c project, is to foster and guarantee the participation of patients across all of the different activities within the project. The aim is to ensure patients and parents contribute as equal partners, to provide advice on clinical development plans and innovative designs and methods.

To facilitate this work, c4c has created a database to host a large pool of young patients, parents, caregivers and patient organisations, willing to help the project in the development of clinical studies within the c4c.The c4c Network would like to request the support of the neuromuscular community to help promote this database of paediatric disease expert patients among your contacts and relevant patient and carer groups.

Interested individuals or groups can find out more information about what is involved and can sign up to the database here. It is important to populate the database with as many individuals, patient representatives and patient organisations as possible; so that the project has access to patient and carer experts across a diverse range of medical specialities and disease areas.

Individuals and organisations do not require any previous experience in similar activities, however previous experience and the absence of conflicts of interest will be considered in the selection process.

DMD Care UK is Launched

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In 2018, updated DMD Care Considerations were published in the Lancet Neurology. These form the International Standards of Care (SoC). TREAT-NMD then worked with the World Duchenne Organisation (WDO) to translate a corresponding ‘Guide for Families’ based on these SoC into different languages.

However, rather than providing patients with reassurance, these guides sometimes caused further anxiety in the UK because families realised that there were gaps between the care that was meant to be provided, and the care they were actually receiving.

So, together with Dr Michela Guglieri and Cathy Turner from Newcastle University, and with the input of clinicians across the MDUK-funded North Star network,  DMD Care UK was created with Duchenne UK’s partnership and funding – an initial £130,000 programme to bring together the leading DMD experts in the UK to review the SoC, agree and publish recommendations for every area of care that can and should be delivered within the NHS.

The project is working closely within the NorthStar Network to also ensure full engagement with clinical experts and that resulting recommendations are accessible to all patients, no matter where they live in the UK or at which hospital they are seen.

Because Duchenne is a complex disease and covers many areas of medicine, we will break down the project into various working groups such as bone care, cardiac care and endocrine care, which covers puberty, adrenal suppression and steroids. Each group will have at least one patient member as well as significant representation from the North Star network. The groups will also build on important work already undertaken by Professor Ros Quinlivan at UCL and funded by MDUK to establish care for adult patients with DMD.

Once the recommendations have been agreed upon within the specialist areas, Duchenne UK will also invest in creating leaflets and webinars to make sure the findings are shared and understood by the community. Meanwhile the project will work with clinicians, professional bodies and the NHS to make them widely available and facilitate implementation over an ambitious but realistic timeframe.

The Bone and Endocrine WG has already been piloting this approach for 12 months with great success. Led by Dr Jarod Wong in Glasgow, they have recently finalised their first recommendations on bone health, adrenal insufficiency and puberty management, including testosterone therapy. The project’s first patient information leaflets and a steroid alert wristband have also been released. A recent webinar to highlight these recommendations can now be viewed here.