Newsletter March 2022

There were two firsts for the TREAT-NMD Education Team in the past few weeks; we held the first ever Education Masterclass for congenital myopathies (CM) in February and the first Duchenne muscular dystrophy (DMD) Early Diagnosis Seminar in March.  We are pleased to say that both events were a great success!

The free 2-day online Congenital myopathies masterclass, was co-chaired by Dr Jim Dowling, Dr Anna Sarkozy, Dr Emily Oates and Dr Nicol Voermans. 122 delegates attended to learn more about diagnosing and managing the care of patients living with CM.

Delegates particularly enjoyed sessions about the Clinical Approach to CM by Heinz Jungbluth and General Care for Patients by Reghan Foley and 100% of surveyed delegates were impressed with the quality of the event programme and online organisation.  But don’t take our word for it, see what Anne Lennox from the Myotubular Trust had to say about the event:

“Just to say how impressive the last 2 days were. What a fantastic event TREAT-NMD organised. I could just feel the learning soaking out into the world of neuromuscular clinicians and therapists. I wish I could convey to our patient community the care and consideration you all give to their lives and futures. It’s priceless.”

The DMD Early Diagnosis Seminar welcomed delegates from a range of countries including Greece, Spain and Finland. The  2.5 hour seminar  opened with Alex Johnson from Duchenne UK giving her perspective on the parent’s journey through the diagnostic process.  Delegates said this was a ‘heartfelt and moving talk’ which gave ‘valuable insight’ into the experience of receiving a DMD diagnosis. The seminar also featured a range of talks from expert speakers including: Annemieke Aartsma-Rus who presented on Genetics; Natalie Goemans on Standards of Care; and Michela Guglieri and Henriette Van Ruiten on Definitions of DMD and Diagnosis.

Thank you once again to all co-chairs,  speakers and delegates who contributed towards the success of these education events.

Watch this space for future masterclass events including the upcoming Australasia Limb Girdle Muscular Dystrophy Masterclass which will be held online on the 11^th and 12^th of May.  We have a great line up of speakers for this free event which will be chaired by Professor Ichizo Nishino and Dr Gina Ravenscroft.  If you are a health care professional based in the Australasia region sign up now!

 

During travel restrictions over the past two years, the TREAT-NMD Advisory Committee for Therapeutics (TACT) has still met the needs of those seeking advice on their therapy development programmes for neuromuscular diseases. While TACT looks forward to returning to a face-to-face format in April 2022,  the committee has proved the success of virtual meetings. This will allow increased flexibility for the TACT process in the future.

Since March 2020, TACT has considered 11 applications for advice in a virtual environment, including three from academic applicants in DMD. These academic applications were able to benefit from a dedicated fund from CureDuchenne that covered associated costs of running the TACT process.  We are delighted that the charity has now agreed to renew the fund for the next round of meetings. As before, academic-led groups working in DMD who wish to benefit from TACT advice can request their travel and accommodation costs to be covered. Meanwhile, TACT administrative costs associated with their applications and running the meetings are also partly reimbursed. This, along with much needed support from other patient organisations, means that TACT can continue to grow and offer expert advice in neuromuscular translational research in a way that remains accessible to academic groups as well as to industry.

Anyone interested in learning more about TACT, including applying for advice, should contact Cathy Turner: catherine.turner@ncl.ac.uk

Full details of the programme for the 7^th International TREAT-NMD Conference have now been released. The event features an exciting line up of expert speakers and opens with the session on Patient Engagement featuring speakers Nathan Peck, founder and CEO of Cure VCP Disease Inc and Terry Pirovolakis, founder of CureSPG50.

Day one includes a range of speakers addressing Clinical Trial Considerations including Chris Weihl, Professor of Neurology at Washington University School of Medicine in St. Louis, Tristen Moors, Vice President, Clinical Operations at Prothelia Incorporated, followed by a session on Global Neuromuscular Care and Access to Treatment which features talks from  Edoardo Malfatti, Centre de Référence de Maladies Neuromusculaires and Nicole Mittman, Chief Scientist and Vice-President of Evidence Standards, CADTH.

See the full line up of sessions and speakers on our website.

Other Conference Updates

Ticket news! The Early Bird offer is still available on tickets until end of April, so grab yourself a bargain now!

Abstract News! The portal is open for abstract submission. Key dates regarding abstracts are as follows:

Abstract submissions open: 1st March 2022

Abstract submission deadline: 7th September 2022

Notification of abstract acceptance: 12th October 2022

And finally, we have a fantastic April ticket offer coming soon.  If you don’t want to miss out keep an eye on the TREAT-NMD social media for further announcements.

We’re pleased to announce that the Swedish NMD Registry, Neuromuskulära sjukdomar i Sverige (NMD in Sweden) have recently completed their implementation of v1.2 of the Duchenne Muscular Dystrophy (DMD) dataset into their data collection platform. Our congratulations go to Anne-Berit and Anna-Karin Kroksmark of the registry for all their hard work in achieving this result.

There are now eight registries who have adopted the new dataset in this way, collecting data from patients in Germany and Austria, Australia, Turkey, Czech Republic, Slovakia, Switzerland, Netherlands and now Sweden.

Additionally, there are five further registries who have adopted the new DMD dataset via the GRP, based in Croatia, Slovenia, Lebanon, Hungary and South Africa, meaning that thirteen registries around the world are now taking part.

The Limb Girdle Muscular (LGMD) Dystrophy project team is also continuing to engage with registries around the world to progress the adoption of the new LGMD dataset.

If we’ve emailed you about either project, please don’t hesitate to get in touch and we will set up a Zoom call at a mutually convenient time to discuss your registry’s needs and what we can do to support you in the adoption of the expanded core dataset. This includes:

• Gap analysis between your current dataset & V1.2 to understand the scope of the project
• Advice and guidance on an appropriate approach to project planning & implementation
• Liaison with other registries who have implemented the dataset to share their experiences
• Financial support to help registries with their implementation activities & data collection

The team look forward to meeting registry curators in person at some of the conferences and events planned for 2022 where we can  discuss collaborating to adopt the new dataset, either through implementing it into your existing registry platform or by adopting the Global Registries Platform or GRP

To discuss the above or any other points relating to the project, please contact the DMD Dataset Project Manager, John Mckenna via john.mckenna@treat-nmd.com

The Daniel Ferguson LGMD 2A foundation was launched on February 28^th International Rare Disease Day.

Daniel Ferguson, was diagnosed at the age of 17 with genetically-confirmed Calpain-related Limb-Girdle Muscular Dystrophy Type 2A (recently renamed LGMD R1), but very little is known about this rare disorder which is characterised by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area).

No cure exists for any form of LGMD, but it is now Daniel’s mission and that of the new Daniel Ferguson LGMD Foundation, also known as DFF to find and to help people like Daniel by enabling those living with LGMD 2A/R1 to better control their future.

The Foundation is an Australian registered charity whose mission is to support the Australian LGMD community by strengthening their sense of community, increasing their visibility and equity, and discovering and implementing solutions for them. DFF is focussed on the Australian LGMD community but is interested in and well connected with global developments in LGMD.

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. Volume 9, Issue 2 includes 9 research articles, plus two open access reviews – on the advances in thymidine kinase 2 deficiency & on aquatic therapy for persons with neuromuscular disease.

To be kept up to date with all of the latest JND news, you can sign up to the journal’s newsletter. To be kept up to date with all of the latest JND news, you can sign up to the journal’s newsletter.

Disease symptom progression in facioscapulohumeral dystrophy (FSHD)  is poorly understood, making the ability to identify signs of deterioration which contribute to anticipatory clinical care more challenging. The slow symptom progression, variability in presentation and the less predictable disease course observed in FSHD, makes measuring change in FSHD symptoms more difficult compared to other neuromuscular diseases. Robust and responsive outcome measures to determine intervention efficacy or lack thereof in clinical trials are essential. Current research highlights inconsistencies in outcome measure selection for interventional clinical trials and longitudinal observational studies.  In addition, anecdotal evidence suggests similar inconsistencies may exist in the clinical care environment. To better understand outcome measure use in FSHD clinical care world-wide the research team from the Royal Children’s Hospital and University of Melbourne, Australia (Mrs Katy de Valle (PhD candidate katy.devalle@rch.org.au) Professor Jenny McGinley (Responsible Researcher mcginley@unimelb.edu.au ), Professor Monique Ryan and A/Professor Fiona Dobson) are inviting medical and allied health clinicians to be involved in a survey.

This online survey will explore the range of outcome measures used in the clinical care environment (ie. neuromuscular (MDA) clinics and rehabilitation facilities) to evaluate the functioning and quality of life of individuals with FSHD world-wide. As a medical or allied health professional who cares for people with FSHD we hope you can help us to better understand the clinical outcome measures used to evaluate any impairments of body structure/function and, limitations to activity and participation experienced by adults and children with FSHD in your clinical setting. Improving our understanding of what instruments are used clinically and identifying any implementation barriers can help improve care and inform future research for children and adults diagnosed with FSHD.

This survey is for research purposes only and participation is voluntary. We anticipate it should take approximately 10-15 minutes to complete. Once we have analysed the data, we can send you a summary of the overall study results if you wish.

Please feel free to share survey with other neuromuscular clinicians who might be interested in contributing to this research.

Principal Investigators and post-doctoral researchers are invited to submit proposals for research projects into spinal muscular atrophy (SMA). Priority will be given to those that address one of the following topics:

• Spinal and muscle regeneration
• SMN-independent pathways relevant to SMA and/or combinatorial therapies for SMA
• Treatments for patients with milder forms of SMA that might not be as amenable to SMN-restoration therapies
• The contribution of nutrition to SMA
• Key functions and roles of SMN protein at different times of development and/or in different cells, tissues and organs
• Biomarkers that provide readouts on the success (or otherwise) of SMN-restoring therapies in SMA
• New and improved pre-clinical animal models of SMA
• The contribution of novel, emerging phenotypes (neuronal and systemic) following SMN restoration in SMA patients and/or animal models

Key dates

• 1st March 2022 – Launch of Call 11
• 13th April 2022 at 12.00pm CET – Deadline for applications
• November – Feedback to applicants

For additional information please visit the website where you can find out about Eligibility and the and how to apply or contact Vanessa Christie-Brown, SMA Europe’s Research Programme Manager.

 

An important study has recently been announced between FSHD Europe and the John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University.

As you may be aware, there is a growing interest from several pharma companies to run clinical trials in FSHD in Europe. FSHD Europe is working with the pharmaceutical industry to ensure that when trials are developed, they are designed and organized in a way to maximize patient involvement and participation. In order to achieve this, FSHD Europe are conducting a large-scale survey of patients and caregivers across Europe.

FSHD Europe are providing funding to the JWMDRC to develop, manage and analyse this survey. The survey will include questions about the patient’s condition and how they currently manage it. It will also include some questions to gain insight into the FSHD community’s thoughts and opinions on clinical trials, and what might encourage them to participate.

We hope this will be far reaching in the FSHD community across Europe and are keen for as many patients and caregivers to be given the opportunity to participate as possible. There are no right or wrong answers, we are looking for your opinions.

The survey will be available to complete online from the 15^th of April until 3^rd May 2022. It will be available in Dutch, English, French, German, Italian and Spanish. FSHD Europe are committed to sharing the information they learn from the survey with the FSHD community.

If you have questions or would like further information, please visit the FSHD Europe website  or contact Megan McNiff at JWMDRC.

For information on upcoming conferences, events and rare disease days please visit the events section of our website. If you wish to notify us of an event that should be included in our listing, please complete the event form.