Newsletter February 2022

We are delighted to say that The European Alliance for Newborn Screening in Spinal Muscular Atrophy won the  “EURORDIS Company Award for Patient Engagement” Award at the  11^th edition of the EURORDIS Black Pearl Awards.  The event took place on the 8^th of February 2022 and is an annual awards ceremony that brings together people living with rare disease, patient advocates, policy makers, scientists, healthcare professionals, industry representatives and more.

Spinal Muscular Atrophy (SMA) is a severe genetic disease and before treatments were available, half of affected babies would not reach two years of age. However, new treatments can be highly effective if babies receive them as soon as possible after birth.  The Alliance was founded in 2020 to speed up diagnosis of SMA across Europe, aiming to have newborn screening for SMA as standard practice in all European countries by 2025.

TREAT-NMD, a proud member of the Alliance, is honoured to have played a part in promoting early implementation of newborn screening for Spinal Muscular Atrophy (SMA) throughout Europe.

Congratulations to all the members of the Alliance led by SMA Europe: EURORDIS, EURO NMD, Groningen University, admedicum, Health-Ecore and IBIMA Institute in Malaga Spain and we look forward to continuing this vital work together.

To find out more: https://www.sma-screening-alliance.org

We are disappointed to announce that the 7th International TREAT-NMD Conference scheduled for 15-17 June in Vancouver has been postponed.

The TREAT-NMD Conference Programme Committee has met and felt that it is necessary to reschedule the event due to the level of restrictions in place in Canada and elsewhere.

The event will now take place in Vancouver, Canada on 7^th-9^th December 2022. We look forward to seeing you all in December.

We will announce further details and updates on the TREAT-NMD Conference website, in the newsletter and on our social media

Register your interest here

Contact the team

In 2021, TREAT-NMD established an FSHD Taskforce bringing together a range of clinicians and patient advocacy representatives with a mutual interest in helping the field move forward. The main aim of this Taskforce is to identify specific projects that are needed in the FSHD field, and as a group they are working hard to recognise knowledge gaps and coordinate efforts to close those gaps. It is hoped that the works of this group will help to advance diagnosis, care and therapies for patients with FSHD.

The Taskforce is chaired by Fabiola Bertinotti (UILDM Unione Italiana Lotta alla Distrofia Muscolare), co-chaired by Valeria Sansone (Clinical & Scientific Director of the NEMO Centre in Milan, Neurorehabilitation Unit, University of Milan) and Enrico Bugiardini (Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London.

If you are interested in finding out more about the TREAT-NMD FSHD Taskforce, please contact Lynsey Surtees (lynsey.surtees@treat-nmd.com).

We’d like to welcome Neil Bennett, who joined TREAT-NMD as our Research and Communications Manager in January.

Neil will be working with the whole TREAT-NMD team as well as the TGDOC chairs and disease sub-group leads to write publications based on the data available through the Global Registries Network as well as TREAT-NMD’s work on dataset development and promotion of best care practices.

Neil is an experienced science communicator; in the neuromuscular disease area, he has worked at Action Duchenne and Muscular Dystrophy UK to develop patient-facing science communication and education tools and helped to promote interaction and information-sharing between pharmaceutical companies and patients. He also worked alongside researchers at the Cancer Research UK Cambridge Institute to provide scientific writing and publication support.

This is a new role for TREAT-NMD. If you have an idea for a publication, please get in touch with Neil – neil.bennett@treat-nmd.com

The Duchenne Muscular Dystrophy (DMD) and Limb Girdle Muscular Dystrophy (LGMD) dataset project teams continue to engage with registries to progress the adoption of v1.2 of the DMD dataset  and the v1 LGMD dataset. Please make sure you check out our help and guidance videos.

This month we held calls with registries from Canada, New Zealand, USA, Argentina, Israel, Netherlands, India and others  to understand any challenges they may face in implementing the new dataset. The support the team can offer includes:

• Gap analysis between current dataset & V1.2 of the DMD dataset V1 of the LGMD dataset to understand the technical 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

We 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

If you have received emails from the team but are yet to engage, 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.

For an informal discussion on this opportunity please contact John Mckenna

If you are a healthcare professional caring for patients with myotubular or centronuclear myopathy anywhere in the world, you are invited to support translational research in these conditions by participating in the Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry. In return for minimal time and effort, your contribution will significantly enhance the quality of the data available to researchers in this area and improve our understanding of these conditions.

The MTM & CNM Registry is a global, disease-specific, longitudinal research database which has been collecting demographic, genetic and clinical data on affected individuals (living and deceased) and female carriers of XLMTM since 2013. Previously collecting only patient-reported data, recent grant funding has allowed the addition of a clinician-reported section of the questionnaires. We are now looking for early adopters to help us grow this feature.

On 27-01-2022 the registry contained 398 participants (259 male and 139 female), of which 40 were reported deceased (39 male and 1 female) and 358 living (220 male and 138 female). Of the 138 living females, 70 were registered as female carriers of XLMTM and 68 as patients. 51 countries are represented, with the largest cohorts being UK & Ireland (103), United States (99), and Germany (34). Causative genes reported include MTM1, DNM2, BIN1, RYR1 and TTN. Questionnaires are available in English, German, French, Spanish, Italian, Polish, Hindi, and Brazilian Portuguese, with more languages to follow in 2022.

The participants do most of the work themselves; self-enrolling, providing e-consent, providing most of the data and updating it every 6 months. In this new development, they will select their clinician who will be invited to log in and provide the following information (where available) for that patient:

1. Confirmation of diagnosis
2. Genetic variant (or upload report)
3. Biopsy report upload
4. Best and current motor function
5. Ventilation status, frequency, type

If you would like to take part or find out more, please contact the Registry Curator, Jo Bullivant at mtmcnmregistry@newcastle.ac.uk.  

What are the centronuclear myopathies?

The centronuclear myopathies are rare congenital neuromuscular conditions characterised by the central location of the nucleus in muscle cells and a highly variable clinical picture. The presumably most common form is the ultra-rare X-linked myotubular myopathy (XLMTM) with an estimated incidence of 1 in 50,000-100,000 male births and a usually severe phenotype[1].

Why should patients join the MTM & CNM Registry?

The registry provides important data to answer research questions and inform clinical trial feasibility studies and supports recruitment into clinical trials and other research studies. It also serves as an important communication and engagement tool for the participants, who receive information about opportunities to take part in research, as well as newsletters and research updates relevant to their disease. Patients can find out more, register or log in on the website

[1] Jungbluth, Heinz et al. “Centronuclear (myotubular) myopathy.” Orphanet journal of rare diseases vol. 3 26. 25 Sep. 2008, doi:10.1186/1750-1172-3-26

CMT 4 Me is a podcast from the Charcot-Marie-Tooth Association (CMTA).  It is an emotional, heartfelt, and humorous podcast for the 3+ million people who have Charcot-Marie-Tooth disease (CMT), their friends, family, and the general public.

CMT 4 Me provides a platform for people with CMT to have a voice, describe challenges, find ways to overcome those challenges, and share successes. Another goal is to spread CMT awareness and unite as a community.

The CMT 4 Me podcast is hosted by Chris and Elizabeth Ouellette and releases every 3 weeks. It will cover research updates, fundraising, unique stories, interviews with the CMTA community, including board members, branch leaders, and CMTA team members.

You can listen via Apple Podcasts, Spotify, Overcast or via the CMTA website.

EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field. Each webinar lasts approximately one hour with the opportunity for viewers to ask questions on the subject area. The recordings and slides are available on the EURO-NMD website for viewers to refer to or in case someone who has expressed an interest is unable to make the live webinar.

Some previous webinars this year include an Introduction into Mitochondrial diseases in adulthood by professor Cornelia Kornblum and Childhood onset Charcot-Marie-Tooth disease by Isabella Moroni.  Coming up soon is Muscle Ultrasound, a biomarker tool for muscular dystrophies on the 10^th of March 2022 and Gene therapy, cancer and neuromuscular diseases on the 21^st of April.

For a full list of all upcoming webinars and to access the previous webinars visit the EURO-NMD website

The 2022 call for grant applications by Duchenne Parent Project Netherlands is now open! The submission deadline is 1 April 2022.

The Duchenne Parent Project Netherlands has invested over 20 million euro in research towards viable treatments for Duchenne Muscular Dystrophy over the last 20 years. The next research call is now open! The Duchenne Parent Project Netherlands funds promising innovative research projects and fellowships with a budget of up to EUR 100,000. Researchers from all countries are invited to apply for funding.

Do you want to know more? Please contact the Duchenne Parent Project Netherlands at research@duchenne.nl or visit https://duchenne.nl/research-application/

Below is a list of upcoming NMD/rare disease events. If you would like to advertise your event in the TREAT-NMD newsletter please complete the online form, or contact TREAT-NMD directly.

The TREAT-NMD Education Team are pleased to announce that applications for our next LGMD Expert Masterclass in Australasia are now open.

This free, live online event will take place on the 11^th & 12^th May 2022 and will be chaired by Professor Ichizo Nishino (National Centre of Neurology and Psychiatry, Japan) & Dr Gina Ravenscroft (University of Western Australia) to healthcare professionals such as neurologists and physiotherapists across this global region.

The Programme lists details of the fantastic themes, workshops and expert speakers who will be presenting at this event and there will be English, Japanese, Mandarin Chinese and Korean interpreters available.

Delegate applications are now open and will close by Monday 2^nd May (or until capacity is reached).

The first TREAT-NMD Early Diagnosis Seminar takes place on the 10^th March. This new addition to TREAT-NMD’s education events will explore how to identify the signs of Duchenne Muscular Dystrophy and is aimed at European paediatricians, paediatric nurses, health visitors and other healthcare professionals involved in the care of babies and young children, so that they can identify the signs and symptoms of Duchenne in boys at the earliest stage.

The DMD Early Diagnosis Training Seminar is free of charge, lasts 2.5 hrs and will be delivered live online by experts in Duchenne Muscular Dystrophy. The speakers  joining us for this event are Annemieke Aartsma-Rus, Natalie Goemans, Michela Guglieri and Henriette Van Ruiten. The seminar features lectures, breakout sessions and discussion groups as well as interactive quizzes.

Interested in finding out more? Find out more on the website

Interested in attending? Register your interest

Got a question? Contact us at: education@treat-nmd.com

The National Organisation for Rare Disorders (NORD) is hoping that they can host their  Living Rare, Living Stronger NORD Patient and Family Forum in person this year. The forum plans to bring the rare disease community together for a day of thoughtful learning, networking, and celebration at the Rare Impact Awards.

The Rare Impact Awards will take place on Sunday June 26^th which will be an opportunity to celebrating the individuals, groups and companies making extraordinary strides on behalf of the millions of Americans impacted by rare disease.

You can visit the living rare website for more information on the awards and NORD for updates on the 2022 Living Rare, Living Stronger NORD Patient and Family Forum.

Muscular Dystrophy UK will host a Muscles Matter Seminar on Congenital Muscular Dystrophy on Tuesday the 29th of March.

The session will cover the latest research into congenital muscular dystrophy as well as information and advice on living well. You’ll hear from experts about progress into research and tips for managing your condition. There will be an opportunity to submit questions to the panel ahead of and during the seminar.

You can register for the event via the Muscular Dystrophy UK website.

AFM-Telethon will be holding their 7th International Myology Congress in person this year.  The congress will be held at the Nice Acropolis Congress Centre on the 12th to the 15th of September 2022.  It will be followed by mitoNice which is an international congress dedicated to Mitochondrial Medicine which will take place from the 15^th to the 17^th of September.

The deadline for online submission of abstracts is  approaching on the 15^th March 2022 and  early bird registration is open until May 31^st 2022.

You can also view preliminary programmes for both Myology and mitoNice.  For more information or to register for the event visit the dedicated conference website.

Parent Project Muscular Dystrophy (PPMD) has an exciting calendar of events for 2022.

including PPMD’s Annual Conference (hybrid in-person & virtual meeting) in Scottsdale, Arizona on the 23rd -26th of June, End Duchenne Tour (both in-person and virtual stops), and Advocacy Conference (virtual) on the 8th of March.

New this year, PPMD will host the Power of Us Summit, our first-ever community meeting focused on the mental health of families living with Duchenne, from April 29-30 in Atlanta, Georgia.

You can view all events on the PPMD website.

Since 2016 Duchenne Parent Project Spain has organized an annual Congress, which in recent years has been suspended due to the pandemic. But next May 13, 2022 they will be with all of you again, to analyse mainly the different therapeutic strategies, the challenges and key priorities to improve the quality of life in children, adolescents and adults with Duchenne Muscular Dystrophy and Becker.

The main objective of this Congress is to facilitate families and those affected who can access the exchange of information and experiences in order to promote mutual support and learn about the different aspects of Duchenne and Becker Muscular Dystrophy.

Later, we will publish the registration form and the provisional program, but in the meantime, save the date May 13 to 15, 2022.

Do not miss it!