TREAT-NMD SMA Expert Masterclass 2019

Conect4Children PPI Database Needs You!

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As part of the c4c project, one of the main goals of the PPI cross-cutting theme is to foster and guarantee the participation of patients across the different activities of the project, involving different work packages, and to allow patient and parents to contribute as equal partners to provide advice on clinical development plans and innovative designs and methods.

To facilitate this work, we have created a database to host a large pool of young patients, caregivers and patient organisations willing to help the project in the development of clinical studies in the c4c project. C4c would like to request the support of the NMD community to help promote this database of paediatric disease expert patients among your contacts and relevant patient and carer groups. 

Interested individuals or groups can sign up to the database using a form on the PATIENTS section of the c4c website. It is important to populate the database with as many individuals, patient representatives and patient organisations as possible; so that the project has access to patient and carer experts across a diverse range of medical specialities and disease areas.

Individuals and organisations do not require any previous experience in similar activities, however previous experience and the absence of conflicts of interest will be considered in the selection process.

New Issue of Journal of Neuromuscular Diseases Published

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A new issue of the JND has been published online. 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 6, Issue 4 includes articles on the added value of cardiac magnetic resonance in Muscular Dystrophies, defects in axonal transport in inherited neuropathies and an article on one year of newborn screening for SMA - results of a German pilot project. 

To be kept up to date with all of the latest JND news you can subscribe to the Journal's newsletter. 

Apply now for the 2020 TREAT-NMD DMD Expert Masterclass in Brazil!

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We are pleased to announce that applications for the 2020 TREAT-NMD Expert Masterclass in Duchenne Muscular Dystrophy are now open. The event will take place in Sao Paulo, Brazil on 6^th and 7^th May 2020 and feature sessions on standards of care, emerging therapies, genetics and much more. There will also be a range of breakout sessions with Q&A interaction so that delegates have the opportunity to discuss issues, ask questions and to network.

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

This masterclass is aimed at professionals working in the diagnosis, care and treatment for people living with DMD. Travel and accommodation will be funded for successful applicants and places are likely to be oversubscribed. For more information regarding the eligibility criteria and how applications will be prioritised, please refer to the application form.

A draft version of the agenda is available here.

To apply for a place at the masterclass please click here.

If you have any questions, please contact DMD Education Coordinator Clare Bradley.

Closing date for applications is 28^th February 2020

Following the masterclass is a two day conference on NMDs at the Hotel Intercontinental, São Paulo on 8-9^th May, organised with the support of TREAT-NMD – more information on this will be available soon!

TREAT-NMD Blog Series: “Stronger Together” by Terry Selucky

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The TREAT-NMD blog series continues this month with a piece written by Terry Selucky from Cure CMD.  
"A triad of patient advocacy organizations for ultra-rare congenital muscular diseases, Cure CMD (Congenital Muscular Dystrophy), A Foundation Building Strength for Nemaline Myopathy, and Team Titin (Titinopathy) convened for a jam-packed and enlightening weekend in Chicago on July 25-28, 2019. With 79 researchers and 400+ affected individuals and family members present, these three collaborative groups synergized their collective knowledge and experience to accelerate the bench-to-bedside pipeline toward clinical trials and to share expertise with the patient community. Held in two parts, the “Stronger Together” conference included a two-day scientific meeting, followed by a two-day scientific and family conference.

The event launched Thursday morning with a comprehensive lecture providing an historical overview of congenital muscle disease, pathophysiology and symptomatology, and specific mechanisms of each condition of focus by Cure CMD, AFBS, and Team Titin. Over the next two days, experts funded by these organizations offered 29 different research presentations. Presenters shared data, pitfalls, and future research; audience feedback will serve to refine the experimental strategy and drive research forward. Attendees also discussed the best use of the Congenital Muscle Disease International Registry, and a final session focused on current therapeutic developments and cross-sectional opportunities. A handful of affected individuals, families, and caregivers were able to observe and participate in end-of-day discussions. Resulting research priorities can be found here.

Part two of Stronger Together focused on building community and connections among affected individuals, families, caregivers, researchers, and clinicians. Families forged new bonds, strengthened existing ones, and had the opportunity to speak one-on-one with the world’s top experts in CMD. The opportunity for affected individuals and their families to be among others like them and to speak with specialists who understand their diseases can be a life-changing one.

Day one of the family conference (Saturday July 27) began with a brief welcome, followed by a plenary session on Pulmonary Care hosted by five experts, then subtype-specific breakouts. Attendees returned at the end of the day for a second plenary session on Feeding and Nutrition. The day ended with a group dinner across the river in downtown Chicago, where 300+ individuals enjoyed a buffet meal, followed by informal after-hours social time for specific age groups.

Day two of the family conference focused on “lifestyle” sessions tailored specifically to the needs and requests of the CMD community. Session topics included, among others: Adaptive Vehicles, Caregivers: Self-Care, Developing Tech for the Measurement and Care of Contractures, Disability Travel, Let’s Talk about Sex, Social Security Benefits, Sib Shop: The Sibling Experience, and many more.

Ultimately, the event reinvigorated the stakeholder community, and reminded us that we are, in fact, stronger together. Find session recordings here, and visit scifam.info for more information about the conference."

Thank you Terry. If you'd like to write a blog post for the series please contact info@treat-nmd.org

Spotlight on... Duchenne Ukraine

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Our 'Spotlight On...' series continues this month with Duchenne Ukraine. 

What is the name of your organisation? Duchenne Ukraine 

What is your geographical reach? 
Ukraine 

How and when was your organisation established? Duchenne Ukraine aims to change the lives of children and their families living with Duchenne Muscular Dystrophy (DMD). Its membership is made up of parents, relatives and friends of Duchenne families. 

What are your organisation's aims? 
The organisation aims: 

• To create a strong Ukrainian community.
• To disseminate information throughout the Ukraine on the existence of DMD.
• To ensure patients and families receive social protection from the state.
• To improve the knowledge of Ukrainian medical professionals.
• To conduct clinical trials in the Ukraine.
• To develop international partnerships. 
• To participate in the development of the International Protocol on the complete elimination of Duchenne Muscular Dystrophy. 

How has your organisation worked with TREAT-NMD? If it has not how would you like to work with TREAT-NMD?
Duchenne Ukraine has been working with TREAT-NMD to translate the Standard of Care for DMD patients into Ukrainian. 

What services/resources do you provide to NMD patients and carers/families?
Duchenne Ukraine have developed a website for families, doctors, teachers, social workers and scientists. On the initiative of their partner FB Eldar- with Hope in the Heart and the NGO Ukrainian Assoication of Neuro-Muscle Diseases and Diseases a meeting for Ukrainian families was held in Lviv on 7th September 2019. This event was prior to the International Day of Awareness of Duchenne. Duchenne Ukraine has also created a video was created about the lives of Duchenne families. 

Do you have a website or social media account? 
The Duchenne Ukraine website http://dmd.org.ua/ 

Is there anything else you'd like to tell us about your organisation?
Duchenne Ukraine address all non-governmental organizations to support us and disseminate information about our activities worldwide.

If you'd like your organisation to feature in the 'Spotlight On...' series please complete the online form. 

10 years of the TREAT-NMD Advisory Committee for Therapeutics (TACT)

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The TREAT-NMD Advisory Committee for Therapeutics (TACT) marks its 10^th anniversary this year. A paper has been featured in the November issue of Nature Reviews Drug Discovery, highlighting the achievements of TACT over the first ten years of its creation.

TACT was established in 2009 to address the issue that most drug development programmes, targeting neuromuscular diseases, failed to bridge the gap between pre-clinical and clinical studies or failed in early-stage clinical trials. Almost 60 applications from both industry and academia have been reviewed by TACT in disease areas including Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), myotonic dystrophy (DM1), facioscapulohumeral muscular dystrophy (FSHD), Pompe disease and limb girdle muscular dystrophy (LGMD). The aim of the paper is to look at the impact of the successful TACT model and its potential to be expanded into other disease areas. To read the full paper, please click here.

20^th TACT meeting in Toronto

The TACT committee just returned from a successful review meeting in Toronto, Canada where we met with three applicants, all working in DMD, to discuss their applications for advice. The discussions were, as ever, constructive and engaging and the reports are now being written. These confidential, comprehensive documents will be with the applicants in December and a brief non-confidential summary will be available on the TREAT-NMD website in January 2020.

NEXT TACT REVIEW MEETING:

The next TACT meeting will take place in Bari, Italy between 24^th-26^th April 2020. We are currently inviting applications from both industry and academic applicants to be reviewed during this meeting. Applications are accepted for all neuromuscular diseases, as well as amyotrophic lateral sclerosis (ALS) and sarcopenia. If you are interested in submitting an application to this meeting or would like to discuss TACT further, please contact Cathy Turner. 

New TREAT-NMD LGMD Advisory Committee

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With exciting developments in the LGMDs, TREAT-NMD announces the formation of an advisory group of key opinion leaders in the Limb Girdle Muscular Dystrophy field.  Chaired by Jordi Diaz Manera, this group includes: Craig Campbell, Michela Guglieri, Nathalie Goemans, Nick Johnson, Jenn Levy, Linda Lowes, Anna Mayhew, Elena Pegoraro, Laura Rufibach, Volker Straub, Tanya Stojkovic, Bjarne Udd, Andoni Urtizberea, John Vissing, Maggie Walter, Kathryn Wagner and Edmar Zantoneli. 

This group  provides a forum for discussion to align ongoing initiatives where possible and share good  practice in the LGMD field.  It will endeavour to:

• Identify gaps in knowledge about diagnosis, standards of care, emerging therapies and disease progression within the LGMD community.
• Develop a strategy to coordinate efforts through TREAT-NMD to address priority areas
• Collaborate with the TGDOC to develop a TREAT-NMD LGMD core dataset to create a global registry following the TREAT-NMD model and learning from similar experience in other rare neuromuscular diseases
• Collaborate with the TREAT-NMD TEC to provide quality educational activities based on the most recent knowledge to increase awareness and diagnosis of LGMDs, and share best practice about management and care.

They look forward to sharing future developments with you. Please contact Jordi Diaz for further information.

European Conference on Rare Diseases 2020: Call for posters

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• Theme 1: The future of diagnosis: new hopes, promises and challenges
• Theme 2: Our values, our rights, our future: shifting paradigms towards inclusion
• Theme 3: Share, Care, Rare: Transforming care for rare diseases by 2030
• Theme 4: When therapies meet the needs: enabling a patient-centric approach to therapeutic development
• Theme 5: Achieving the triple A’s by 2030: Accessible, Available and Affordable Treatments for people living with a rare disease
• Theme 6: The digital health revolution: hype vs. reality
• Theme 7: Rare Disease Patient Groups Innovations