Deadline Extended for Patient Representative Nominations for the TREAT-NMD Executive Committee

TREAT-NMD Blog Series: "A New Form of Jet Lag: Impressions from an Online Meeting" Annemieke Aartsma Rus

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Due to the COVID-19 pandemic many conferences are converted into virtual meetings, including the annual meeting of the American Society of Gene and Cell Therapy (ASGCT), originally planned to take place in May in Boston, but instead taking place digitally in my living room. I had the privilege to chair one of the virtual sessions. A new experience. Firstly, because it involved a new form of jet lag. Normally, your body tells you it is evening, while you watch tells you it is morning. NOW the watch confirmed the session indeed took place late in the evening.

The presenters and chair had to sign in half an hour before the session start for instructions. Speakers came from different time zones, where the speaker from China had the worst deal: he had to present at 4 am. Despite the mutual jet lags and the fact that this was the first virtual meeting for the presenters and the chairs, the session ran without major hiccups. One of the speakers had to repeat himself after his microphone stopped working for a minute – however, that could just as easily have happened during a face to face meeting.

Although physical meetings have advantages, an online meeting system also offers unique opportunities. People could type in questions during the talk. As a chair I had the power to publish relevant questions. Meeting participants could then vote for questions they liked answered during the Q and A. This prevented people hijacking the microphone to ask a long irrelevant question and allowed me to select the most useful questions to be answered live. Afterwards, any leftover or follow up questions could be answered by the presenter via chat during the session.

All in all, my first online meeting was a good experience. Of course, I hope we’ll be able to have face to face meetings again soon. However, I think it is clear that a lot more is possible digitally than we thought possible and that at least part of our many meetings can probably also be done without traveling. 

If you'd like to submit a blog post for the newsletter please contact us via info@treat-nmd.org for more information. 

Applications Now Open for First TREAT-NMD LGMD Expert Masterclass

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Applications for the 1st TREAT-NMD LGMD Expert Masterclass in Washington DC, USA are now open. The application form can be accessed here.

This masterclass is aimed at professionals working in the diagnosis, care and treatment for people living with LGMD. We welcome applications from any country that has a high need for LGMD training and education. If you are awarded a place, travel and accommodation must be arranged independently. For more information regarding the eligibility criteria, please refer to the application form.

The agenda and selection of participants is overseen by the TREAT-NMD Education Committee (TEC). Whilst financial support is generously received from Sarepta, the masterclass is organised and run by TREAT-NMD entirely independently from industry influence.

Please note: Due to Covid-19 and travel restrictions, it is possible we will have to hold the event as a ‘virtual’ event, more details about this will given soon.

 If you would like any further information, please contact LGMD Education Coordinator Katie Pegg. 

DMD Research Update

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TREAT-NMD would like to thank the Chair of the Executive Committee, Annemieke Aartsma Rus for her tireless efforts in maintaining the DMD Research section of the TREAT-NMD website. 
Annemieke recently submitted changes which included general updates to the hyperlinks and summaries and Ingrid Verhaart has produced a Dutch translation of the DMD Research overview which is now available on our website. 

If you would like to assist in the translation of the DMD Research Overview present on the website, into any additional language, please contact us.  

Update to WMS COVID-19 NMD Advice

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The COVID-19 outbreak is increasingly impacting countries worldwide, with many undertaking restrictive measures on their citizens to contain the spread of the virus, including recommendations that all those with a rare disease should self-isolate for 12 weeks.

As neuromuscular conditions are considered rare diseases, TREAT-NMD highly recommends following the advice of your national authority, and the World Health Organisation. Dr. Maxwell S. Damian, PhD, collated the World Muscle Society (WMS) COVID-19 advice for neuromuscular patients, carers, general neurologists and non-specialist medical providers. This document is also intended to inform neuromuscular specialists particularly regarding frequently asked questions and basic service requirements.

The advice is endorsed by the Members of the Board of the WMS, colleagues from the Editorial Board of Neuromuscular Disorders, the official journal of the WMS, European Academy of Neurology (EAN) Scientific Panel Muscle & NMJ disorders, and EURO-NMD's Executive Committee.

What has been updated?
The 4th update of the document has now been published on the WMS website. The document addresses the deescalation of the current shielding measures. "Since the last update of these recommendations, a new discussion is emerging, concerning the safe de-escalation of some aspects of shielding and self-isolation to allow people with neuromuscular disorders to resume social interactions and education, work, or attend scheduled medical appointments."

The full document can be found on the WMS website. 

Myotobular Trust Research Grant Call 2020

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Background

The Myotubular Trust (UK Registered Charity No: 1137177) was established in 2006 to raise money for research to find a cure and/or treatment for any of the genetic forms of centronuclear and myotubular myopathy.

There are a number of genetically distinct forms of centronuclear myopathy.  The commonest is x-linked, usually called myotubular myopathy, affecting in the vast majority of cases, only boys.  It is also usually the most severe, presenting in the new-born period and there are associated breathing and swallowing difficulties in addition to the general muscle weakness.  The other forms are either dominant or recessive in inheritance, are usually, but not always, milder, and vary widely.

2020 call for projects
Myotubular Trust is holding a 2020 call for research grants. We will require completed applications by 1700 hours GMT Friday 26^th June 2020.  We anticipate making awards by early September.

We are looking to fund further projects that will help find a cure and / or a treatment for any form of centronuclear and myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources.  This year we would also like to receive applications that shed light on the genotype/phenotype inter-relationships in centronuclear and myotubular myopathy.  This call will be open to research bodies internationally.

We will be looking for the following types of application:

1. A project grant applied for by a Principal Investigator to fund a project for 2-3 years duration to be carried out by a Post-Doctoral researcher, or PHD student
2. A Myotubular Trust fellowship – basic science (3-4 years duration), where the scientist has identified a group that he or she wants to work with. Award is made to a named individual.

 In particular we would like to encourage the application of new technologies to research into centronuclear and myotubular myopathy; interventional trials; studies that shed light on genotype/phenotype inter-relationships and collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding of new projects with other organisations.

Myotubular Trust’s Scientific Advisory Board (SAB) is chaired by Professor Francesco Muntoni of The Institute of Child Health, University College London. The SAB makes recommendations to the Myotubular Trust Trustees on which projects to fund,  based on scientific assessment and peer review.

Further guidance and an application form can be found on the website

If you wish to learn more about the Myotubular Trust, please see our website http://www.myotubulartrust.org or email research@myotubulartrust.org

Duchenne Ukraine hosts Online Meeting

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An international online meeting of patient organisations, organised by NGO Duchenne Ukraine, took place on 12 March.

Participants from Israel, Czech Republic, Germany, Australia, USA and a family from Pakistan whose member is undergoing treatment in Belgium came together to discuss and share ideas about how Duchenne Muscular Dystrophy could be be treated. 

DMD organisations may have different ways of dealing with and supporting DMD families and patients however ultimately each has the same goal and the sharing of their experiences and insights are extremely valuable. 

Duchenne Ukraine would like to thank all those who participated in the meeting and they hope very soon they'll be able to meet again.  If anyone would like watch the meeting, in English, it can be found via this link. 

If you would like further information about Duchenne Ukraine it can be found on their Facebook page. 

New Study Seeks Female Carriers of the MTM Mutation

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A European study, led by Dr Nicol Voermans, from Radboud University Medical Centre, The Netherlands, will be performed into the possible symptoms of the muscles in female carriers of a myotubular myopathy (MTM) mutation.

Dr Voermans has a special interest and expertise in congenital myopathies, and the study team consists of Prof. Ulrike Schara, Essen (Germany), Prof. Heinz Jungbluth, London (UK), and Dr. Carsten Bonnemann, NIH (USA).

This study concerns all female relatives of boys/men with the X-linked form of MTM - whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins. The aim is to visualize the entire spectrum of symptoms in carriers, thus we are looking for as many female participants in Europe as possible.

The study consists out of a number of digital questionnaires which can be completed at home. There is the possibility that a follow-up of this study, consisting of some simple neurological tests, will be performed in the future however this will depend upon the situation with COVID-19. The results of this study will provide a better understanding of the disease, improve the health care of female XL-MTM carriers and also contribute towards clinical trial preparedness.

Would you be interested in participating in this study? If so you must be 18 years old or older and you must be able to fill in the digital questionnaires.

If you'd like further information please send an email to the team responsible for the study.

ENMC Produces White Paper on Patient Involvement in the NMD Field

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In the field of neuromuscular disorders, engaging patients is since long recognised as key issue. Therefore, the ENMC has been encouraging patient participation to each of its workshops in the past 25 years. With a special workshop, ENMC aimed to further strengthen patient participation for a set of important domains:

1. psycho-social support of families going through the processes of screening and diagnosis
2. transition from child, to adolescent to adult patient
3. research that has major impact on daily life (nutrition, pain, fatigue)
4. registries and biobanks
5. clinical trial design
6. regulatory and consenting processes

From the workshop discussions it became clear that a real step forward in the involvement of patients up to the level of decision-making requires training and coaching of all stakeholders; doctors, researchers, regulators, industry, patient representatives etc. It is important to ensure proficient communication about the wishes and challenges of each stakeholder in implementing patients’ participation in the six domains addressed. This effort requires changing attitudes, and therefore, ambassadors are needed at the local level who inspire and empower others about the benefits of patients’ participation. If you want to become such an ambassador in your country, you may be interested in the White Paper, which summaries the workshop recommendations for the six domains and for all relevant stakeholders in the neuromuscular field