Where should the 2021 TREAT-NMD Conference be held?

Apply Now for the 2020 TREAT-NMD DMD Masterclass!

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Applications are open for the 2020 TREAT-NMD DMD Expert Masterclass. The event will take place in São Paulo, Brazil on 6^th and 7^th May 2020 and feature sessions on standards of care, emerging therapies, physiotherapy, 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 network.

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. Priority will be given to applicants from South American countries who have not previously attended in order to address the need for training in DMD in this region. For more information regarding the eligibility criteria and how applications will be prioritised, please refer to the application form. 

To see the agenda and to apply for a place click here.  

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 with no input from the funders.

Closing date for applications is 28^th February 2020

If you would like any further information, please contact DMD Education Coordinator Clare Bradley.

Register for the TREAT-NMD supported Latin American Conference

Following the DMD 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 and registration is available here.

Translations of a Guide to the 2017 Standards of Care for SMA

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We are delighted to announce the guide to the 2017 standards of care for SMA is now available in Macedonian. Thank you to the patient organisation STOP SMA Skopje and to the clinicians for translating this fantastic resource so it can be used more widely.

The guide to the SOC is now available in Macedonian and Ukrainian, with more languages coming in the next few months. You can access them on our website here.

If you would like any of the guides printed professionally or require further information please contact our project coordinator, Nicole O'Connor.

New Edition of the GNE Registry Patient Newsletter Published

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The January edition of the newsletter features a clinical trial update, a patient story from Jennifer Yashari (pictured) who lives with GNE Myopathy, details of upcoming events and more.

The newsletter is aimed at GNE Myopathy patients who have signed up to the registry, as well as anyone else within the International GNEM community. The newsletter is published towards the end of each month, and new content is always welcome. If you would like to submit an article for the newsletter, or if there is anything in particular that you would like to see in the newsletter, please contact Lucy Imber.

For any other queries, please contact the registry directly. 

Spotlight On...

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This month our Spotlight On... series continues with the MYO-Care National Foundation. 

What is the name of your organisation? MYO-Care National Foundation. 

What is your geographical reach? Middle East and Africa 

How and when was your organisation established? There is slight awareness regarding Neuromuscular disease diagnosis and management in our countries, patients suffer in silence with no diagnosis or access to treatment. So our team decided to start an non-government organisation (NGO) to provide care and academic work in this field. It was officially established as NGO in 2019. 

What are your organisation's aims? 
1. To provide diagnosis for neuromuscular disorder patients in the region
2. To provide academic workshops and publications supporting the information regarding such rare disorders in our region
3. Working on clinical trials and providing treatment for patients

How has your organisation worked with TREAT-NMD?
The organization is now holding the Egyptian Neuromuscular’ Registry which has been in collaboration with TREAT-NMD since 2012. In addition we recently finished translating the SMA Standards of Care which will be published on the TREAT-NMD website soon. 

What services/resources do you provide NMD patients and carers/families?
Diagnostic service
Psychological support
Medical convoys
Managing patients according to Standards of care
Rehabilitation programs
Genetic counselling

Does your organisation have a website or social media account? 
https://www.facebook.com/pg/muscledisease/community/

Thank you to the MYO-Care National Foundation. If you'd like your NMD organisation to feature in the next TREAT-NMD newsletter please complete the online form. 

Call for abstracts for the EPTRI Open Meeting

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Abstracts can now be submitted for the EPTRI Open meeting, taking place from 2-3 April 2020. 
 
European Paediatric Translational Research Infrastructure (EPTRI) is an EU funded project aimed to design the framework for a new infrastructure dedicated to paediatric research that will work to accelerate the paediatric drug development process from medicines discovery, biomarkers identification and preclinical research to developmental pharmacology, age tailored formulations and medical devices. The final goal is to facilitate the translation of the acquired new knowledge and scientific innovation into paediatric clinical studies phases and medical use. 

EPTRI is a pan-European initiative which involves partners from EU and non-EU countries, including non-profit research organisations, top-level universities, scientific and clinical centres of excellence. According to the survey conducted to map paediatric research facilities and competences, more than 300 research units declared their availability to provide technologies, services and paediatric expertise, and have been grouped in the following Thematic Research Platforms: Paediatric Medicines Discovery, Paediatric Biosamples and Biomarkers,
Developmental Pharmacology, Paediatric Medicines Formulations and Medical Devices.

The deadline for abstract submission is 29th February 2020. For more information interested parties can email EPTRI or go to the project website.  

Translational Summer School 2020

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EURO-NMD are delighted to announce that the planning for its third Translational Research Summer School, which will be held in July 2020 in Leiden, Netherlands is underway.

Building on the past two summer schools, both of which received excellent feedback, the residential course will furnish attendees such as researchers and clinicians with a well-rounded knowledge of the translational pathway.

Attendees will also benefit from the very latest knowledge available in the neuromuscular community as this course is delivered by notable key stakeholders in the field.

The summer school is targeted at MDs, PhD/Postdoc researchers and others working in translational research in the NMD or RD field.

EURO-NMD have been successful in securing funding to assist with this year's summer school and as such they are able to offer reduced fees and pay accommodation costs for most attendees. EURO-NMD really hopes this will encourage those who have not applied previously, due to budget constraints, to consider applying this year. 

With these things in mind, EURO-NMD recommends applying promptly to ensure the maximum chance of successfully securing a place at the 2020 Summer School.

They look forward to seeing some of you in Leiden!

TREAT-NMD Blog: 'CureDuchenne Biobank Launch' - Erin Frey

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CureDuchenne has launched the CureDuchenne Biobank, a neutral, centralized and self-funded data hub that will unlock information to accelerate research. It will provide a consistent set of resources for scientific discovery and validation in support of existing and future Duchenne muscular dystrophy (DMD) therapy efforts.

CureDuchenne is partnering with Dr. Tahseen Mozaffar of the University of California, Irvine for strategic development and implementation, and with RUCDR Infinite Biologics, the world’s largest university-based biorepository affiliated with Rutgers University. The CureDuchenne Biobank was launched in October at their annual FUTURES Conference. More than 30 attendees immediately gave their samples and ongoing efforts will ensure that all patients with Duchenne have a chance to contribute their own samples to support research.

Over 3,000 mutations have been associated with Duchenne (1). While the deletions and duplications may occur anywhere in the DMD gene, they are concentrated between exons 45–55 for deletions and exons 2–10 for duplications (2). In 2016, the FDA granted accelerated approval for Exondys51™( eteplirsen), an antisense oligonucleotide compound indicated for the 10–15% of DMD patients (~1500 treatment eligible individuals) who have the exon 51 deletion. In December 2019, the FDA granted accelerated approval to Vyondys 53 (golodirsen) for Duchenne patients who have a confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping. It is estimated that about 8% of patients with Duchenne have this mutation. Thus, the current approved treatments potentially benefit up to 23% of patients.

“The CureDuchenne Biobank will support current studies and serve to incentive and catalyse new research into rare mutations for patients that have no current therapeutic options,” said Romina Foster-Bonds, Director of Programs, CureDuchenne and lead for the CureDuchenne Biobank.

Since the launch, families from all over the world have expressed interest in donating their samples to the CureDuchenne Biobank. With over 50 samples collected so far, there are additional collections scheduled alongside CureDuchenne events to meet the demand from families. By starting with sample collection efforts across the United States, the hope is to collect samples from patients with various mutations, socioeconomic and racial backgrounds to provide a more accurate representation of the whole Duchenne population. CureDuchenne strongly encourages patients from other countries to contact them if they plan to be in the United States and would like to participate in our Biobank.

Of most importance to families is that EVERY MUTATION MATTERS to CureDuchenne, who is committed to building and growing this effort to help all children with Duchenne.

For more information or to register to participate, visit the CureDuchenne Biobank site here.

If you would like to write a blog post on an NMD related topic please contact the TREAT-NMD Secretariat for more information. 

New Issue of the Journal of Neuromuscular Diseases (JND) Published

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The latest issue of JND has been published online. The JND aims to faciliate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis).

New Share4Rare Chapter for Congenital Muscular Dystrophies and Information about NMD Pilot

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Share4Rare is working with clinicians, patients and families to create a library of medical content for rare neuromuscular diseases. The Congenital Muscular Dystrophies chapter is now available on the Share4Rare website. 

Quality of life questionnaires for the Share4Rare neuromuscular disease pilot will be available to registered users of the platform soon. If you are an adult with a neuromuscular disease, or a carer for a family member with a neuromuscular disease, register now to participate. More information about the survey will be available in February.