Newsletter October 2021

We are pleased to announce that we have appointed David Allison as the new CEO of TREAT-NMD Services Ltd (the not for profit legal entity established to manage the financial, operational and legal aspects of TREAT-NMD) who will be working closely with Jim Dowling, the TREAT-NMD Executive Chair.

David joined TREAT-NMD on 1st September 2021 and will become CEO of TREAT-NMD Services Ltd as of 1st November 2021. His aim is to support the growth and effectiveness of the TREAT-NMD Global Membership Alliance through the further development and management of systems and processes, strategic and operational management, contracting, secretarial functions and the management of TREAT-NMD finances.

David has a wealth of expertise from his work within the Pharmaceutical Industry and healthcare leadership within the NHS.

This experience includes leading a CRMO (Contract Research and Manufacturing Organisation) within the Pharmaceutical Industry, major hospitals within the NHS and spinout enterprises such as Newgene Ltd focussed on leading edge genetic testing. He established a GCDE (Global Centre for Digital Excellence) within the NHS to deliver digital transformation. This has led to an understanding of patients, clinicians, research, industry and digital adoption necessary to ensure TREAT-NMD builds on the great work done by Ben Watling and the team to date.

We would like to take this opportunity to say a huge ‘thank you’ to Ben, who David will be replacing, for all his hard work in bringing TREAT-NMD to where we are today. We wish Ben the very best of luck in his retirement.

There is a great unmet need for identifying new therapies for Duchenne Muscular Dystrophy. At the same time, it is critical that potential treatments be studied and tested in clinical trials in order to ensure their safety and efficacy.

It has come to the attention of TREAT-NMD that families of patients with Duchenne muscular dystrophy are raising money to fund a ‘lifesaving’ stem cell treatments. The TREAT-NMD executive committee would like to issue the following statement:

There is currently no clinically approved stem cell therapies for Duchenne, and there is no evidence that stem cell therapy is safe or effective for Duchenne muscular dystrophy

Stem cell therapy is in early clinical development for Duchenne muscular dystrophy, including an ongoing clinical trial sponsored by Carpricorn therapeutics. This trial is designed to test safety and potential effectiveness of this stem cell therapy product. Participants in the trial receive the treatment as part of the trial, and not by independently paying for the medicine. The information regarding safety, adverse events, and efficacy undergoes careful assessment by monitors and regulators and the results are presented at international meetings and in the peer reviewed literature.

Importantly, clinics selling stem cell treatment as a therapy make unsubstantiated claims about safety and efficacy of this approach. There is no evidence that stem cell treatment offered by these clinicals is effective and there is no evidence that it is safe.

Selling this as a treatment is a not an acceptable clinical practice, and furthermore carries significant risk for potential harm to patients using such unproven and unregulated therapies. We therefore strongly recommend against pursuing such treatments, and advocate against the raising of money to support obtaining non-regulated substances or biologics.

As physicians and researchers working on Duchenne muscular dystrophy, and in partnership with families and advocacy groups, we are fully aware of the need to find effective therapies for this condition; nevertheless we caution against any unproven initiative which could put the health and potentially the lives of boys and young man affected by Duchenne Muscular Dystrophy at risk.

There’s exciting news around the programme for the TREAT-NMD Conference, 15^th-17^th June 2022, Vancouver Canada. The TREAT-NMD executive committee are pleased and honoured to announce that the keynote speech will be given by Geralyn Miller, Senior Director of AI For Good Research Lab at Microsoft. From Geralyn’s talk will gain an insight into how AI analytic techniques can be used to transform healthcare and empower people.

As well as the keynote speaker, the TREAT-NMD Conference Programme Committee has confirmed that the list of sessions will include:

SESSION ONE: Patient Engagement

SESSION TWO: Clinical Trial Considerations in Ultra-Rare Patient Groups

SESSION THREE: Global Neuromuscular Care and Access to Treatment

SESSION FOUR: COVID impact on Outcomes, Care & Clinical Trial Design

SESSION FIVE: Living with NMD: practical considerations and QOL

SESSION SIX: Emerging Therapeutics options in NMD

SESSION SEVEN: Preparing for future trials and interventions

The TREAT-NMD Conference Programme Committee has designed the sessions to include speakers from a wide range of expertise and experience in the field of neuromuscular disease, including industry, patient advocacy, academia, research and regulatory affairs. With this, each session will give an opportunity for the audience to engage in the debate with the panel of experts to stimulate debate.

For further updates to the programme and to register your interest, check out the TREAT-NMD Conference website.

There are only a few sponsorship packages remaining. If you would like to know more about sponsorship opportunities, contact: education@treat-nmd.com

The TREAT-NMD Advisory Committee for Therapeutics held its 25th meeting (virtually) on the 23^rd of October. TACT meets twice a year to provide expert, multidisciplinary and independent guidance on the translation and development path of therapeutic programs in rare neuromuscular diseases from either industry or academic groups.

The Autumn meeting considered advice on pre-clinical work for Duchenne muscular dystrophy (DMD). We were delighted to welcome the application from Professor Guglielmo Sorci from the University of Perugia in Italy.

The TACT core committee and secretariat put together a bespoke panel of experts to advise Professor Sorci and his team on how they felt they could best proceed with their studies. A confidential report detailing this will be provided to the applicant within 6 weeks of the meeting.

TACT is also considering a number of further online advice meetings during the remainder of 2021 in order to accommodate already pending applicants in the current online environment.

However, we are very hopeful and excited that meetings from 2022 onwards will, once again, be in person. This allows us to review up to four applications per two-day meeting and enjoy the benefits of face-to-face interaction – between colleagues on the panel and with the applicants themselves, The next two meetings will be in Bari, Italy on 23-24th April 2022 and Philadelphia, USA on 5^th-6^th November 2022. We do still have limited availability for applications to these meetings, so please get in touch if you would like to consider going through a TACT review and receiving the expert committee’s advice. TACT can benefit academic or pharma-led groups from pre-clinical stages through to all phases of clinical trials. You can read more about TACT here.

TACT governance means that our Chairs change after three years in post. Following 36 months of the excellent and strong leadership of Annamaria De Luca, we would like to thank her enormously for all her hard work as she rotates back onto the Core group. We would also now like to welcome Annemieke Aartsma-Rus from Leiden University Medical Center in The Netherlands, as the new Chair of TACT. Annemieke has been involved in the committee for many years and has also served as Chair of TREAT-NMD in the past as well as also being the current chair of the TREAT-NMD Education Committee. We are delighted that she has agreed to take this important position and look forward to benefitting from her increased input and guidance over the next few years.

For more information on the TACT review process or to submit or discuss an application for advice, please contact the TACT Coordinator, Cathy Turner, or TACT support, Laura Robertson.

We are delighted to announce that the DMD Guide for Families is now available in Korean. The guide is based on the 2018 Standards of Care for Duchenne Muscular Dystrophy (DMD); it provides valuable information to families and patients about aspects of care and treatment.

The translation of the guide into Korean is all thanks to Dr. Jung Hwan Lee , Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Anna Cho, Department of Pediatrics, Rare Disease Center, Seoul National University Bundang Hospital and Dr. Shin Jin-Hong, Pusan National University Yangsan Hospital for translating this brilliant resource so it can be used more widely.

The DMD guide for families is available in a wide variety of languages including US and UK English, Brazilian Portuguese, German, French, Ukrainian, Russian, Spanish and Czech with more languages coming. You can access them on our website here. The translations will be available on the web version of the guide in 2022. You can view the web version of the DMD Guide.

We would also like to thank: Jong Hee Chae, Department of Pediatrics, Genomic Medicine Institute, Seoul National University Children’s Hospital, Seoul National University College of Medicine,  Young-Chul Choi, Department of Neurology, Yonsei University College of Medicine, Jee Hun Lee, Department of Pediatrics, School of Medicine, Sungkyunkwan University, Samsung Medical Center and Yun Jeong Lee, Department of Pediatrics, Kyungpook National University Hospital for their help in the inspection of the translation.

For more information about the DMD Guide for Families contact: education@treat-nmd.com

TREAT-NMD executive committee member Nathalie Goemans retired in 2020. Due to the pandemic her retirement symposium and formalities were postponed to October 15 2021. The symposium features past EC members Elizabeth Vroom and Eugenio Mercuri, and current EC members Volker Straub and Annemieke Aartsma-Rus. The speakers acknowledged the work Nathalie has done for TREAT-NMD as chair of TGDOC, core member of TACT, EC member, member of the educational committee, and the Duchenne Care Consideration Group. Furthermore, she received a ‘Special Certificate’ from the World Muscle Society for the vital contribution she has made to the neuromuscular world through many years of devoted service.

We would like to congratulation Nathalie with all her achievements in the field, and extend our appreciation to Nathalie here and we are also grateful that she will continue some of her duties for TREAT-NMD post-retirement.

Our Masterclasses are a fantastic opportunity to share current best practice with experts and other healthcare professionals from around the world but don’t take our word for it. Joanna Tokarska, a Physiotherapist from the National Chamber of Physiotherapists, Poland, reviews our LGMD European Masterclass which took part back in April of this year:

“It can be challenging to find the latest knowledge on the topic of muscular dystrophies and as a physiotherapist, I am often relying on my own experience and that of my colleagues. Since there are not so many patients with LGMD disease, and every case is different, it is challenging to capture the whole picture of the patient’s symptoms and keep up to date with current, evidence based, practice. Therefore, it was a great pleasure to take part in the TREAT-NMD LGMD Masterclass in April 2021 and a unique opportunity to hear live talks from LGMD patients and expert physiotherapists, doctors, and professors. Also, the opportunity to ask live, moderated questions to expert speakers, and have them answered on the spot by them was exceptional.

 It is now crucial to put into practice the knowledge gained from attending the Masterclass event – and there is a lot of knowledge! Fortunately, the available pre-recorded and post-event video recordings make it easy to assimilate and revisit this knowledge.

 It was mentioned during the event that no one person in the world can manage dystrophy treatment alone; we need cooperation. In my opinion, the Masterclass is perfect proof that cooperation is possible across the world, and I would recommend anyone who comes in to contact with people living with LGMD to attend this Masterclass.”

Don’t worry if you missed the LGMD Masterclass, plans are already underway for another two LGMD Masterclasses in 2022. 

The first LGMD Masterclass of 2022 will be held in May, and we are extremely pleased to announce that it will be hosted online for delegates located across Australia and Asia. The programme is currently being finalised and we can’t wait to share it with you soon. 

The second LGMD Masterclass of 2022 is being planned as a ‘face-to-face’ event and given the success of our 2020 USA Masterclass, this event will return to Northern American Audiences during late Autumn/Winter 2022. Watch this space for further updates! 

 For further information about TREAT-NMD education events, see our website.

Tiffany Cook, mother to a son with Duchenne muscular dystrophy and Senior Director of CureDuchenne Cares, has faced the financial burden of Duchenne for 15 years, and decided enough was enough.

In 2018, Tiffany, filed an application to add Duchenne to the Social Security Administration Compassionate Allowance List (CAL). Three years later, her application was just approved – marking a significant triumph for thousands of individuals and families who have battled for benefits in the past. Individuals living with Duchenne who are over the age of 18 can now get disability benefits approved faster and easier, answering unmet needs for adults living with Duchenne.

Tiffany’s son – Wil Cook – was diagnosed with Duchenne at age 7, lost ambulation at age 17, and now at age 21, his family has had to pay out of pocket for medical needs such as: a fully-accessible house, wheelchair, urinals, accessible van, insurance, etc. “We’re blessed that we’re able to help support Wil’s financial needs, but I think about all the other families and how they are coping–It is unacceptable that people with rare diseases like Duchenne are not qualified for benefits,” said Tiffany.

Social Security Disability Insurance (SSDI) benefits are a financial lifeline for millions of Americans who are suffering from disabilities, however qualifying for these benefits is not easy–especially with a rare and relatively unknown disease–Most families don’t know what to do or how to navigate the process. Tiffany’s efforts in championing this initiative on behalf of thousands of individuals and families coping with Duchenne has helped reduced the bureaucracy and roadblocks SSDI applicants with Duchenne must overcome when seeking to alleviate their financial burden.

The first episode of Science Will Win a new podcast from Pfizer is out now. Science Will Win is a four-part mini-series which will explore the science behind gene therapy, the next generation of medicines which could benefit patients with rare genetic diseases. The first episode introduces the use of gene therapy in treatment of inherited rare diseases including Duchenne Muscular Dystrophy.

You can listen to the podcast on Apple podcasts, Spotify or via their website

The Speak Foundation (the first patient-led organisation for muscular dystrophy) is excited to announce that YouTube has now enabled subtitles for all of their 2021 International Limb Girdle Muscular Dystrophy Conference programming! Now, you can watch each day of the conference in your language of choice!

The conference took place virtually last month and featured talks on a variety of topics such as updates on clinical trials and emerging therapies, patient focussed sessions, regulatory aspects of drug development and many more.

You can find all four days of the conference program on The Speak Foundations  YouTube channel

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.

TREAT-NMD is launching a new education initiative in Duchenne Muscular Dystrophy. The first TREAT-NMD DMD Early Diagnosis Seminar will take place in Spring 2022 (date TBC).  This educational event will explore how to identify the signs of Duchenne Muscular Dystrophy. The first seminar is aimed at a European audience including paediatricians, paediatric nurses, health visitors and other healthcare professionals who are the first point of contact for healthcare 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 clinicians who are experts in the field of Duchenne Muscular Dystrophy. The expert speakers who will be 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.

There’s lots of ways to find out more about this event. You can:

Find out more on the website

Register your interest

Fill in the survey

Contact us at: education@treat-nmd.com

Whilst the programme for the new Congenital Myopathies Expert Masterclass is being finalised, TREAT-NMD can reveal that this event will be taking place online to European audience on Wednesday 23rd & Thursday 24th February 2022.  

This 2-day masterclass will be free to attend and is targeted towards healthcare professionals involved in the diagnosis, management and treatment of patients with a Congenital Myopathy located across Europe.  

To receive future updates about this event and to be notified as to when we are receiving application forms to attend the European masterclass, register your interest in the masterclass by clicking here. 

 

Registration is now open for the 14th EPNS Congress.  The congress will take place on 28 April – 2 May 2022.

The Congress will be a ‘hybrid’ event combining both a physical meeting in Glasgow with the opportunity to attend on a virtual platform as well.

EPNS looks to support the paediatric neurology community and to improve the standards of care of all children with suspected neurological problems.

For more information, to register or to view a preliminary programme, visit the EPNS website.

EURORDIS has created training to expand the understanding of how pre-clinical research translates into real benefits for rare disease patients aimed at patient representatives.

Participants will gain knowledge and skills to enable them to effectively participate in discussions with the researchers, policy makers and companies responsible for research or research infrastructures.

The training features expert speakers and researchers, from across Europe and the topics covered include the history of genetics, diagnostics, new technologies in gene therapy and drug repurposing.

The next EURORDIS Winter School will take place on 21-25 March 2022, online. Applications to the Winter School 2022 have been closed however if you did apply, look out for the results which have just been announced.

You can access 3 pre-training webinars and there is a selection online courses on their website to complete prior to the online training week.

The First International Conference on Rare Diseases and Paediatric Research organised by ‘’95’’ Rare Alliance Greece together with Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF) and Athena Research and innovation center in information communication & knowledge technologies. will take place virtually from the 18th to the 19th of November.

The main aim of the Conference is to open the discussion with all relevant stakeholders on the challenging topic of research in paediatric and rare diseases. The conference will also look to answer the way that all the participants can contribute to high quality paediatric and rare disease research as well as the development of accessible, available and affordable therapies.

The Conference will be an opportunity to be updated about current developments, be an active participant and contribute to this European discussion.

High level professionals’ representatives from the European Commission, European Parliament, European Medicines Agency, national government representatives, patient organizations and international networks will be among the speakers.

Also, throughout the stakeholder discussion sessions, the Conference will create the opportunity to strengthen the collaboration and exchange of ideas between patients, researchers, industries, policy makers and regulators and others.

The Duchenne Data Foundation, in collaboration with the World Duchenne Organization, is launching the 2021 edition of the Duchenne Patient Academy (DPA). In this intensive training session, patient advocates receive training and updates to build a strong base for current and future global advocacy.

Duchenne Patient Academy works in partnership with leading DMD patient organizations to set a solid patient advocacy base for the Duchenne and Becker MD community. Through connecting leading experts in their fields, DPA aims to contribute a collective and strong voice to coordinate the global advocacy strategy. The previous edition of the Duchenne Patient Academy convened with over 120 participants from 52 countries.

Participants of the Duchenne Patient Academy develop a deeper understanding of the research, drug development, regulatory, policy and global frameworks in the DMD/BMD community that define best practices of international advocacy to drive research and care.

From Tuesday November 30 to Saturday December 4, the Duchenne Patient Academy will consist of 2,5-hour webinars during the week (18:00 – 20:30 CET), with a 4-hour training session on Saturday (15:00 – 19:00 CET). The final agenda, consisting of expert speaker presentations and interactive sessions, will be sent to the participants.

Application for Duchenne Patient Academy 2021 closes on November 9. Applicants can expect to receive a reply by mid-November.

• Attendees are required to attend all webinars, and read the preparatory materials.
• Estimated time commitment is 17 hours for preparation and participating in the sessions.
• A good knowledge of English and a strong commitment is essential to participate in the training and discussions.

To apply please click here