2022 TREAT-NMD Conference

Could You Become Part of the TREAT-NMD Executive Committee?

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In accordance with our charter, the TREAT-NMD Alliance are seeking to appoint three new members, 2 academic and 1 patient representative, to join the Executive Committee. Current members Andoni Urtizberea, Elizabeth Vroom and Nathalie Goemans are coming to the end of their terms as members of the committee and TREAT-NMD would like to thank them for their expertise, hard work and dedication.

The TREAT-NMD Charter defines an academic representative as:

• A person who has an academic post in a relevant discipline
• A person who has substantial experience in the neuromuscular field
• A person who can represent TREAT-NMD at scientific based NMD/rare disease conferences

The Charter also defines a Patient Representative as:

• A person who is actively involved in the activities of a neuromuscular disease patient organisation or
• A neuromuscular disease patient

Please complete the relevant nomination form if you wish to be considered for the committee.  

The deadline for receiving nominations is 16th April 2021. Candidates must be an individual TREAT-NMD member to be able to be nominated. Both self-nominations and nominations by others are welcome but both nominator and nominee must be members of TREAT-NMD. If you nominate another TREAT-NMD member, please seek their permission before doing so. 

A shortlist of nominees will be sent out to individual TREAT-NMD Alliance members on 30th April 2021. These members will then have two weeks to vote for their preferred candidate(s). The successful candidates will join the TREAT-NMD Alliance Executive Committee to help with the strategic planning and direction of the Alliance, and will be announced in the TREAT-NMD Newsletter in May.

Roles and Responsibilities of Executive Committee Members 

Overview 

The Executive Committee is responsible for providing overall policy and strategic direction to the TREAT-NMD Alliance, oversees activities and progress, and delegates responsibility for day-to-day operations to the representatives of the various activity groups. The Executive Committee will have no more than 13 and no fewer than 8 members. The Executive Committee receives no compensation other than reasonable expenses. Members of the Executive Committee are elected as private individuals and not representatives of their home institution or organisation.

Main roles and responsibilities 

1. Represent TREAT-NMD at conferences and events 
2. Promoting TREAT-NMD by including slides in presentations at appropriate events 
3. Take responsibility for delivering areas of the Action Plan Commitment 
4. Provide advice, opinion and expertise on issues raised at monthly meetings
5. Suggest ideas about the work of TREAT-NMD 

Commitment

1. Commit to participating in monthly teleconferences - duration 1-1.5 hours per month
2. Attend annual Executive Committee meetings preferably in person
3. Be involved in disease specific task forces and/or TREAT-NMD committees
4. All Executive Committee members will serve 2-year terms, but are eligible for re-election, with at least three Executive Committee positions up for rotation every 2 years. 

For more information about TREAT-NMD Membership please visit our website and if you have any questions regarding the process of nomination please contact us.

TREAT-NMD Core Dataset for LGMD Project Update

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We are excited to announce that the second phase of project will begin rolling out the TREAT-NMD Core Dataset for LGMD to LGMD registries. The rollout will commence in April 2021 and continue until June 2022.

How did we get to this point? Well we  have held four meetings which were opportunities for key stakeholders to provide feedback and support. The purpose of those meetings was to have a concise agreement of items and to find commonly agreed definitions. The TREAT-NMD Core Dataset for LGMD (V1 2021) will be finalised and available to all by April 2021.

In the roll out phase we will be seeking further feedback from registries to assess the feasibility of the Core dataset in a real-world data collection process and to help us to identify the challenges and boundaries that registries may face in the adoption of the LGMD dataset.

If you'd like to learn more about the project you can visit the TREAT-NMD website. 

The ongoing support received from LGMD stakeholders has been very positive and their participation has helped build the project to where it is now. This collaboration will enable the project to become a great success.  We encourage any registry who is collecting LGMD data and wants to be involved in the roll-out of the Core Dataset to get in contact with Sonia Segovia for further information on how your registry can take part.

Have You Completed the LGMD Care Questionnaire Study?

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On behalf of the TREAT-NMD Limb Girdle Muscular Dystrophy Advisory Group two surveys have been developed to better understand current care practices from the perspective of both patients and clinicians. The results of these surveys will help shape Standards of Care for those living with LGMD. 

The Clinic Survey is aimed at clinicians who diagnose and/or manage patient care. 
The Patient Survey aims to give patients and their care givers the opportunity to report their care experiences. The aim is to capture as many views as possible so it would be appreciated if the surveys could be disseminated as much as possible.

The Advisory Group would like to thank the many individuals who volunteered to assist in the translation of the surveys. Thanks to them the Patient survey is available in English, Spanish, German, Portuguese, French, Korean, Norwegian, Russian and Ukrainian. The Clinic survey is available in English, Portuguese and Russian. Your hard work is very much appreciated. 

The IRB at The Abigail Wexner Research Institute at Nationwide Children’s Hospital in Columbus Ohio has granted study approval. All responses are fully de-identified, and responses will remain anonymous.

Professor Annemieke Aartsma-Rus Wins Ammodo Science Award

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The TREAT-NMD Alliance would like to congratulate Professor Annemieke Aartsma-Rus who was one of eight laureates of the Ammodo Science Award for fundamental research in 2021. Professor Aartsma-Rus will receive a cash prize which will be used to explore new avenues in fundamental research in the coming years. 

This is not the first prize Professor Aartsma-Rus has won. Her work has won international prestige and she has been awarded a VIDI grant from ZonMw, grants from the Princess Beatrix Spierfonds and the EURORDIS Black Pearl Science Award. 

A professor of Translational Genetics at Leiden University Medical Centre, Annemieke is a pioneer in exon skipping and an important part of the TREAT-NMD family.  

A huge congratulations to Annemieke and her team at Leiden University. 

TREAT-NMD Core Dataset for DMD v1.1 2021 Rollout

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The roll out of the TREAT-NMD Core Dataset for DMD (v1.1 2021), has now begun.

The project team have spent the last few months contacting TGDOC registries with information about the new dataset release and offering a one to one teleconference to discuss the dataset. The aim of these calls was to better understand the unique requirements of the registries and challenges they may face in their implementation of the dataset. Moving forward the implementation process will continue with those registries who have been in contact with the project team. 

In addition, TREAT-NMD will be standardising our approach to implementation for all NMD datasets. Newly released datasets or updates to existing ones will be accompanied by a web-based dataset specification tool, similar to that which was  developed for the TREAT-NMD Core SMA dataset V1 2018. Moreover, a feedback button is provided for each data item to enable registry curators to report any issues, difficulties, or any other feedback in real time.  The DMD dataset team will then be available to respond and assist. This tool is being developed, for the DMD dataset, by Marcel Heidemann, who is also responsible for the IT of the NMD registries based at the Friedrich-Baur-Institute, Munich, Germany.

The DMD dataset roll out will be aligned with the launch of the TREAT-NMD Global Registries Platform in May 2021. For TGDOC DMD registries, who do not currently have or are looking to replace their current IT solution, the Global Registries Platform is a suitable, free of charge alternative. The new DMD dataset is embedded in the new platform which is a cloud-based system. More information on the platform can be found on the TREAT-NMD website or you can contact Susan Cardiff the Data Systems Support Officer for the Global Registries Platform project.

The TREAT-NMD Core Dataset for DMD Version 1.1 2021 can be found on the TREAT-NMD website. Please note this dataset has been developed for clinician-entered registries however a patient reported version is in development. 

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

New Translations Available of the TREAT-NMD DMD Guide for Families

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We are excited to announce that two new translations of the TREAT-NMD DMD Family Guide are now available.

Thanks to the hard work of L.A.N.D (Lebanese Association for Neuromuscular Disease) and AFM -Téléthon we now have the Standards of Care Family Guide available in both Lebanese Arabic and French.

The latest translations mean that our Family Guides are available in 13 different languages. These fantastic resources are free to view on the TREAT-NMD website and more translations will be added in the coming months. 

If you would like to find out about printing any of the guides, or require further information, please contact the TREAT-NMD Education Team. 

Goodness is Diffusive: A long way to go to defeat FSHD - Fabiola Maria Bertinotti, FSHD patient advocate. 

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Dan Perez and his amazing mother Catherine really “changed my life” by initiating me to Patient Advocacy when, just after the FSHD diagnosis of my only son in 2005, I resorted to them and received immediate support, compassion, concrete help and information. This is what I’ve learnt about patient advocacy, a very human way to act like a “Good Samaritan” in contemporary days.

Since then, I’ve been devoting myself to advocate people living with a FSHD - Facio Scapulo Humoral Dystrophy and Neuromuscular Diseases in Italy and at international level. Goodness is diffusive!

What I love and respect about Dan Perez and FSHD Society (often referred to as The Society), the extraordinary organisation that he and his mother established 30 years ago, is that no one has ever been left behind and their door has always been open for everyone. Sometimes it may be kind of risky to let your house door open, isn’t it? Anyone could enter. Yet, the principles of acceptance and inclusion for the Society are higher than any possible risk.

There still so much to do in the field of FSHD after 30 years. Patient Advocacy is needed more than ever to firmly and steadily move forward more research, more collaboration amongst the various stakeholders, more concreteness and, most importantly, to let humanity prevail over interest.

It is with this spirit that I am going to join the first task force within TREAT-NMD dedicated to FSHD. Let’s hope we can also do a good job serving as a catalyst to push on new ideas and nurture new opportunities for the people living with FSHD.

Last but not least: when I shared the picture (above) of Dan Perez in my LinkedIn network, someone asked me whether Dan was “angry” in front of the US House in 1994, I explained that one of the most typical effects of FSHD is that it often impacts the face muscles. This fact clearly represents a huge psychological burden for the people living with FSHD as they feel deprived by the possibility of communicating their feelings through their smile. There still so much culture to spread around FSHD, for too long a forsaken disease notwithstanding its high incidence* which makes it the most spread in adulthood.

*A conservative estimate of incidence for the most common type of FSHD is 1 in 14,286 births throughout the world; however, due to increased experience with FSHD, population-based research and improved genetic testing, this estimate may be low; actual incidence may be 1 in 7,500.

UMMS Wellstone Center for FSHD

New Translations Available of WMS Vaccine Recommendations

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The World Muscle Society (WMS) has been providing advice for people with neuromuscular disorders, and their healthcare providers since the start of the COVID-19 pandemic. There is now also a document aiming to answer questions regarding the newly developed vaccines against Coronavirus SARS-CoV2, asked by people with neuromuscular disorders. This is a rapidly developing field, and the WMS will keep this advice in regular review. We have been delighted that WMS members from around the globe have now translated the documents into so many languages which demonstrates the true value of sharing this information as well as the international reach the neuromuscular community has. The latest translation to be added is Japanese, which has been kindly coordinated by Prof Yoshihide Sunada, Kawasaki Medical School, Kurashiki-City, Okayama, Japan.

View the Covid-19 and people with neuromuscular disorders: World Muscle Society position and advice here

View Covid-19 and people with neuromuscular disorders: World Muscle Society advice - Vaccines here

For any further queries or if you wish to add a translated version in another language please contact Clare Beach, WMS Secretariat

Stop! Have you Checked your Links to the TREAT-NMD website?

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As you may be aware a number of changes have been made to the TREAT-NMD website over the last few years. The previous .eu domain has now expired and will not be reinstated. Please check any hyperlinks on your organisation websites and update any that still end in '.eu' as they will no longer be forwarded automatically to the official domain www.treat-nmd.org. 

Rare2030 Foresight Study Recommendations Published

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The Rare 2030 “Recommendations: The future of rare diseases starts today” present the conclusions of the Rare 2030 Foresight Study, initiated by the European Parliament and co-funded by the European Commission Pilot Project and Preparatory Actions Programme.

This two-year study (2019-2021) worked closely with over 250 experts from across the rare disease community and has resulted in eight overarching recommendations to ensure that the future of 30 million people living with a rare disease is not left to luck or chance. 

It sets out the need for a new European policy framework for rare diseases to: 

• Guide the implementation of national plans for rare diseases with the same measurable objectives. 
• Bring together a refreshed concerted strategy across research, digital, healthcare, social welfare complementing existing legislation
• Encourage continued investment in the field of rare diseases at both the European and national levels to ensure we do not lose momentum. 

The eight strategic recommendations are complimented by large number of more specific, action-focused recommendations covering diagnosis, treatment, care, research, data, and European and national infrastructures: together, they set out the roadmap for the next decade of rare disease policies.

Publication of VISION-DMD White Paper Announced

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On 10th March Vision DMD published a white paper on how to return individual clinical trial results back to patients. It focusses on addressing the ethical and technical challenges, using the vamorolone clinical trial experience. 

In summary:

• Often, individual patient data is not returned to the participants, even when this is requested.
• ReveraGen received a grant to develop an approach providing patient study data directly to participant families
• The white paper highlights several challenges and barriers, proposing a framework to return clinical trial data
• So far, 15 families have initiated the return of individual results

“Patients participate in a clinical trial to generate new knowledge to advance drug and technology development. During a clinical trial, data on individuals is collected to generate aggregated information to support the study objectives.” Says Dr. Conklin, Medical and Regulatory Director, ReveraGen BioPharma. “Often, this individual patient data will not be returned to the participants, even when this is requested.” 

The White Paper 'Returning Individual Clinical Trial Results Back to Patients can be found here.

New Multilingual Translations of the RYR-1 Foundation Clinical Care Guidelines

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In September 2020, the RYR-1 Foundation published the Clinical Care Guidelines: What Patients & Families Need to Know about RYR-1 Related Diseases. 

This handbook is written in non-technical, easily understood language to empower patients and their families with RYR-1 related diseases to improve their care and quality of life. The document has been translated into multiple languages including: Arabic, Chinese (Simplified), English, French, German, Spanish and Vietnamese. These guides are freely available on the RYR-1 Foundation website.