TREAT-NMD Executive Committee - Nominations Now Open for New Academic Members

Rare Disease Day 2020

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Rare Disease Day 2020 will take place on Saturday 29th February and will be celebrated with a number of events around the world.

Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008. The purpose of the day is to raise awareness amongst the general public and decision makers about rare diseases and their impact on people's lives. 

Rare Disease Day events are organised by hundreds of patient and rare disease organisations all over the world. These organisations work on both a local and national levels to raise awareness for the rare disease community in their countries. 

To find out how you can get involved please go to the Rare Disease Day website.

TACT Publication: Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)

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Disease Models and Mechanisms have recently published a special edition titled ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies’. Included in this edition is a review on the lessons learned in improving translatability of preclinical studies for neuromuscular disorders from the TREAT-NMD Advisory Committee for Therapeutics (TACT). This Review evaluates the experience accumulated by TACT, which provides detailed constructive feedback on clinical proposals for neuromuscular diseases from researchers in both academia and industry, and emphasizes that a timely critical review of preclinical efficacy data from animal models, including biomarkers for specific diseases, combined with adherence to existing guidelines and standard protocols, can significantly help to de-risk clinical programs and prevent disappointments and costly engagement. To view the publication, please click here.

If you would like more information about TACT, please contact Cathy Turner for further details.

Next TACT meetings:
The next TACT meeting will take place in Bari, Italy between 25^th-26^th April. Three applications for advice will be reviewed by the multi-disciplinary TACT review panel. Each panel is bespoke to the application under review.

We are currently accepting applications for the following TACT meeting which will place in Halifax, Canada between 28^th-29^th September 2020. If you would like to submit an application to this meeting, please contact Catherine Turner.

New Translation of A Guide to the 2017 International Standards of Care for SMA

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The plain language version of the scientific ‘Diagnosis and Management of Spinal Muscular Atrophy: Part 1 and Part 2’ is now available in German. This version is a friendly guide written to explain the type of medical care someone with SMA might receive; it is for adults who are living with SMA and for parents and carers of children who have SMA.

Thank you to all of the organisations who worked to make the German version possible. You can access the German version under the ‘Care’ tab on the TREAT-NMD website here.

Other languages currently available include: English (UK), Hungarian, and Macedonian with others in development. 

Help us learn how Share4Rare can work for you!

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Share4Rare is a global community of rare disease patients and carers. The platform provides a secure online space for users to connect, learn about their disease and participate in research.

Share4Rare would like to invite you to participate in a survey to learn more about how the platform interacts with clinicians, researchers, patients and patient organisations. You do not need to have experience with Share4Rare in order to take part. 

• Survey for patients/carers
• Survey for patient organisations
• Survey for clinicians
• Survey for researchers

To learn more about our community: 

• Share4Rare Introduction Video  
• Share4Rare FAQs

Spotlight On...

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This month the 'Spotlight On...' series continues with the Unit for Inborn and Hereditary Neuromuscular Disorders (EMAN). 

What is the name of your organisation? Unit for Inborn and Hereditary Neuromuscular Disorders (EMAN)

What is your organisation's geographical reach? 
Norway

How and when was your organisation established?
Unit for Inborn and Hereditary Neuromuscular Disorders (EMAN) at Oslo University Hospital, formerly known as Center for Inborn and Hereditary Muscular Disorders has been a centre for rare hereditary neuromuscular disorders for many years. EMAN is in a collaborative agreement called the NMK Consortium with National Neuromuscular Centre (NMK) and Frambu centre for rare disorders since 2015. The consortium has a national responsibility for rare hereditary neuromuscular disorders in Norway and is part of the National Advisory Unit on Rare Disorders in Norway.

What are the aims of your organisation?
The aim of the consortium is to ensure a sustainable, equal and effective nationwide competence service to users with a rare neuromuscular diagnosis, their relatives, the health care service and other service providers. EMAN and the consortium wants to empower patients, strengthening advocacy and networks and collaborations of professionals. EMAN wants to educate professionals, patients, organizations and the general public by making rare disorders more visible in today’s society and ensuring easier access to services. EMAN participates in research, research networks and work to monitor and spread information on treatment. The NMK-consortium is applying to become a member of the European reference network EURO-NMD. EMAN aims to implement national and international guidelines and evidence based knowledge.

How has your organisation worked with TREAT-NMD?
EMAN has submitted data for the TREAT-NMD Global Registries. EMAN also participates in the TREAT-NMD conferences. EMAN wants to become an active member of the TREAT-NMD organization by participating in research and best practice guidelines.

What services/resources do you provide to NMD patients and carers/families?
EMAN do diagnostic assessments and follow-up of individual patients, children, adolescents and adults. Patients with an unresolved diagnosis after primary examination in another part of the specialist health care system may receive specialized examination at EMAN. EMAN maintains and develops international network to promote research collaboration. EMAN hosts national diagnostic videoconferences 4 times per year. EMAN develops and participates in courses for patients, families and carers and collaborates with the patient organisation Neuromuscular Assosiation Norway (FFM) to ensure patient involvement at all levels. 

Do you have a website or social media account?
https://oslo-universitetssykehus.no/avdelinger/nevroklinikken/nevrologisk-avdeling/seksjon-for-sjeldne-nevromuskulere-tilstander/enhet-for-medfodte-og-arvelige-nevromuskulere-tilstander-eman/eman

https://oslo-universitetssykehus.no/fag-og-forskning/nasjonale-og-regionale-tjenester/nasjonal-kompetansetjeneste-for-sjeldne-diagnoser/national-advisory-unit-on-rare-disorders

If your organisation wishes to take part in the 'Spotlight On...' series please complete the online form. 

New H-CARE Survey on Patients' Experience of their Healthcare from Rare Barometer Voices

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For every patient to access high-quality and cost-effective care, 24 European Reference Networks (ERNs) connect healthcare providers across Europe in virtual networks to provide the best care and treatment options for people living with rare and complex diseases. Through European Reference Networks, clinicians can access existing expert knowledge from another country on a patient’s disease.

The long term goal of the H-CARE Survey is to develop a centralised patient feedback mechanism across the 8000+ rare and complex diseases, and across the 24 European Reference Networks.

This will allow clinicians to:

• Measure the evolution of patients’ and caregivers’ experience with the care they receive over time and across Europe;
• Provide information in order to align strategic decisions and operational delivery of the ERNs with patients’ needs and experiences, specifically the development of healthcare pathways and treatment protocols

...while having the benefits of:

• Avoiding duplication of efforts through pooling of resources (human, financial, tools such as software, etc.) which will result in economies of scale;
• Ensuring robust, comparable and independent validated data and results by using the same survey methodology across ERNs;
• Achieving sufficient survey sample size and coverage of the ERNs patient population.

All patients with a rare or complex disease plus members of their families and their caregivers can participate in the H-CARE pilot study. The survey will take approximately 10 minutes to complete and your responses will help specialised hospitals to deliver better care to patients. 

For more information please go to EURORDIS's website. To participate in the survey please click here.

TREAT-NMD Blog Series: 'TREAT-NMD DMD Expert Masterclass 2019' - Anri Human, Sefako Makgatho Health Sciences University

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'What do you get when you combine the beauty (and food!) of the Netherlands, passionate and dedicated specialists/experts in the field of neuromuscular diseases (NMDs), patient representatives, an extraordinary organising team chaired by Annemieke Aartsma-Rus and an agenda of outstanding speakers? An unforgettable, amazing learning and networking experience called the ‘Expert Masterclass in Duchenne Muscular Dystrophy 2019’!

This two-day workshop (16-17 May 2019, in Amsterdam) brought clinicians, researchers and patients together with one communal goal- to share knowledge and experience and improve the quality of healthcare services for all patients living with Duchenne.  It was a privilege to attend this workshop for the very first time, and I recommend anyone working in the field of NMD to add this to your ‘bucket list’.  As a physiotherapist, this workshop provided me with an enhanced understanding of and a glance into the real lives of the boys and men that we work with and the challenges that families face on a daily basis.

Another added bonus of attending was meeting so many experts whose publications I have previously read, such as Michela Guglieri and Nathalie Goemans…it felt like I was in NMD Hollywood! Also, I finally understood some of the complex genetic concepts related to DMD because of the engaging and clinically relevant presentation of Annemieke Aartsma-Rus. Last, but not least the ‘break-out sessions’ brought a sense of comradery, as it seems like many of us all over the world face the same challenges when it comes to services for DMD. It was quite reassuring, to know that you are not alone and that together we are stronger!

 I left the Expert Masterclass with a feeling of awe, understanding and having made some wonderful new friends, but also a rekindled passion for my work in NMDs, as I know that we make a difference…one patient at a time.' 

There is still time to register for the 2020 TREAT-NMD DMD Masterclass. For more information please click here. 

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

Opportunities

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TREAT-NMD Services Limited are looking for a Project Manager. 

The purpose of this varied and challenging post is to facilitate development and collection of the new expanded dataset in the TREAT-NMD Global DMD (Duchene Muscular Dystrophy) Registries, in order to support post-marketing data collection for emerging DMD therapies.

The post holder will project-manage and take overall responsibility for establishing, managing and coordinating the DMD Dataset Project which involves:

• Achieving stakeholder consensus agreement on the DMD Core Dataset
• ‘Roll Out’ and adoption of the Core Dataset across all participating DMD Registries
• Overseeing the development of a DMD Module on the TREAT-NMD Universal Registry Platform (URP).

The post holder will work with a diverse group of international stakeholders to generate and maintain consensus and deliver tangible results in line with agreed project plans. This will include reporting on agreed deliverables to meet funder requirements.

The closing date for applications is 12pm (GMT) on Friday 6th March. 

For further information on the role please click here.

Translational Summer School 2020 - Reduced Fees

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The third Translational Research Summer School will be taking place in July in Leiden, the Netherlands. Nine applications have been received so far but there is still time for others to register. 

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. Delegates can attend for as little as 100 Euros, this covers the costs of both accommodation and meals. EURO-NMD really hopes this will encourage those who have not applied previously, due to budget constraints, to consider applying this year. 

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. For more information please click here. 

TREAT-NMD DMD Masterclass Deadline Extended! Last Remaining Places!

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The deadline for applications for the 2020 TREAT-NMD DMD Expert Masterclass in São Paulo, Brazil has been extended to 6^th March. There are just a few places remaining, so if you would like to see the agenda and to apply please click here.

This masterclass is aimed at professionals working in the diagnosis, care and treatment for people living with DMD. Priority places will be given to candidates applying from South American countries. In addition, we welcome applications from countries where flights to São Paolo are reasonable and  economical and where there is a high need for DMD training and education. Travel and accommodation will be funded for successful applicants. For more information regarding the eligibility criteria and how applications will be prioritised, 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 and PTC, the masterclass is organised and run by TREAT-NMD entirely independently from industry influence.

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

Closing date for applications is 6^th March 2020

Following the masterclass there is a two-day NMD conference at the Hotel Intercontinental, São Paulo on 8-9^th May, organised with the support of TREAT-NMD – more information on this and how to register is available here.