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8th October 2018
 
TREAT-NMD Newsletter Survey Results

The TREAT-NMD newsletter goes out to over 3,000 subscribers every month.

To ensure we produce the most relevant content for all our subscribers we created a short survey. The questionnaire asked readers to assess which articles from the newsletter they found the most and least interesting and asked them to provide comments on what they would like to see more of within the newsletter.

We received an excellent response to the survey and participants provided us with some really positive and constructive feedback, which we will be working to implement in early 2019.

More news will follow in the coming months. If you wish to submit an article for the Newsletter you can do so via the online form.

 
 
 
New DMD Family Guides
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Using updated recommendations, The Muscular Dystrophy Association USA, Parent Project Muscular Dystrophy, TREAT-NMD and the World Duchenne Organisation UPPMD have again worked together to produce a current and comprehensive Duchenne Guide for Families ensuring that the very latest in care standards are accessible to all people living with Duchenne. The new guide was launched on 7th September, to coincide with Duchenne Awareness Day, a global event which seeks to highlight DMD and encourages the publication of updated DMD Guide for Families as well as other DMD educational materials.

The 2018 Duchenne Guide for Families replaces the previous version. To ensure as many people as possible have access, TREAT-NMD and World Duchenne Organisation UPPMD are working with the international Duchenne community to provide translations into a number of languages. As soon as these are completed, we will upload them to the TREAT-NMD website. A number of translations are already underway largely thanks to the motivation and dedication of our patient community.

You can find more information on the TREAT-NMD website.

 
 
 
 
INNOVCare Project Results
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The results of the INNOVCare Project (Innovative Patient-Centred Approach for Social Care Provision to Complex Conditions) were announced at the final project conference in Brussels earlier this September. The conference brought together 100 participants from 20 countries, including representatives of the other project partners.

So, what is the INNOVCare project? This 3-year long project was created with the aim of creating practices on how to ensure rare disease patients and carers receive integrated care which is connected across medical, social and support services.

What were the results of the project? The project designed a holistic, person-centred care pathway which was tested in Romania that brings together a national rare disease resource centre (NoRo Resource Centre) with regional case managers and public bodies. Results of the project demonstrated that those who received the case management services improved their level of information about their disease and rights, knowledge of available services and their capacity to self-manage. Furthermore, a series of recommendations was released which will make sure integrated care is sustainable across EU member states.

A key message from the conference was that despite the successes and achievements of INNOVCare, much remains to be done – the good practices and recommendations identified in the project need to be scaled-up and implemented at national level.  The partners will seek avenues for ongoing collaboration, to try to advance this important work; for instance, one immediate ‘next step’ will be to consolidate the action points identified at the final INNOVCare and RD-ACTION workshop, to optimally engage actors such as European Reference Networks and the European Network of Resource Centres for Rare Diseases in the delivery of integrated, holistic care.

 
 
 
 
conect4children Update
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In the June newsletter, TREAT-NMD reported on how it is working with conect4children (c4c) to establish data-standards and principles to ensure the project can provide a sustainable, integrated platform for the efficient and swift delivery of high quality clinical trials for children and young people. c4c is funded through IMI2 (Innovative Medicines Initiative 2 Joint Undertaking).

c4c is now fully up and running with activities to establish a large collaborative European network for paediatric clinical trials well under way. You can sign up to receive the project's newsletter by scrolling down on the homepage.

 
 
 
 
New edition of the Journal Neuromuscular Diseases
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The Journal of Neuromuscular Diseases (JND) has released its latest edition (volume 5, issue 3).  The journal has been updated to include new chapters, which includes:

  • Virtual reality computer gaming with dynamic arm support in boys with Duchenne Muscular Dystrophy (DMD)
  • Ankle strength impairment in Myotonic Dystrophy Type 1: a five year follow up.
  • A physical and psychological approach to managing fatigue in Myasthenia Gravis

JND is dedicated to providing an open forum for original research that will improve fundamental understanding and lead to effective treatments of neuromuscular disorders. The journal also aims to support the development of important tools for clinicians and scientists in the field. To be kept up to date with JNDs news and content, you can register to receive the newsletter via the website.

 
 
 
 
SMA Expert Masterclass
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TREAT-NMD are delighted to announce that the first SMA Expert Masterclass will be co-chaired by Professor Eugenio Mercuri and Professor Nathalie Goemans. It will take place between 19th - 20th of November in Rome, Italy.

The debilitating nature of Spinal Muscular Atrophy (SMA) means that timely diagnosis and effective care are integral to improving the prognosis and quality of life of patients with this life-limiting condition.

The two-day expert masterclass will provide a platform for health care providers to share ideas, challenges and successes in delivering optimal care to people with SMA.

Leading experts will deliver presentations and interactive workshops to disseminate information on:

  • Latest updates on standards of care.
  • Current treatment guidelines and available therapy options with review of market access options in Europe.

The masterclass is suitable for all health care providers who may encounter and provide care to patients with SMA. There are a limited number of spaces available to other professions but places for health care providers will be given priority.

View the programme here.

Programme may be subject change.

The registration fee is €330. You can apply to attend using the link below. Once you have registered your interest someone will contact you with the registration page and hotel information.

Register your interest here

Funding: Some pharmaceutical companies may provide financial support to healthcare professionals. Please contact a pharmaceutical company employee in your country to ask about the process that is involved. TREAT-NMD have a limited number of bursaries reserved for HCPs if you are unable to secure funding through a pharmaceutical company and have no other way to finance attendance please contact Nicole.oconnor@ncl.ac.uk.

 
 
 
 
TGDOC Annual Registries Review
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TGDOC Registry Curators we need you!

The TREAT-NMD website has a wealth of information and resources which are important for those within the NMD community, and it is imperative that this information is kept up to date.

One area which requires constant update is the list of NMD related patient registries. A patient registry collects information about patients who are affected by a particular condition, in this case NMD related diseases. The TREAT-NMD website is the first step point of contact for patients and researchers alike when looking for specific information on to contact a registry and this task becomes more difficult if the contact details are incorrect. Curators of TGDOC registries are therefore encouraged to inform TREAT-NMD of any changes to their contact details. If you have not heard from TREAT-NMD regarding your registry for a while, please contact us, as it is likely your details need to be updated.

Also, to compliment this, the Secretariat will also be conducting an Annual Registries Review, with the first one happening in October 2018. The purpose of the review is to give us more accurate information about your registry, so we can promote this to our collaborators.

The Review will take the form of an online questionnaire which will be used to collect information such as contact details, total number of patients, ethical approvals, and dataset compliance amongst other things. Each curator (or other primary registry contact) will be contacted individually with an invitation to complete the questionnaire. However, if you are a TGDOC Registry Curator and you have not received an invitation by Friday 19th October, please get in contact with Hannah Murray.

The Review will close on Friday 16th November so it is important that all TGDOC Registry Curators complete the survey and take part in this crucial exercise. If you have any questions please contact Hannah Murray

 
 
 
 
DMD Awareness Day - Egypt
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The 7th September is World Duchenne Awareness Day and the Egyptian Neuromuscular Registry commemorated this important day by hosting a DMD Awareness event for healthcare professionals. The event was covered by the Egyptian national press and enabled the registry to highlight its vision: to reach out to all muscular dystrophy patients and their caregivers throughout Egypt.

The registry's event treated attendees to a programme which included presentations on the importance of early diagnosis in DMD patients and the application of standards of care, given by Director of the Egyptian Registry, Dr Rasha El Sherif. Dr Ichizo Nishino, Director of Neuromuscular Research NCNP, Japan talked about the diagnosis of muscular dystrophy and Dr. Hoda Sedeik, a physiotherapist, discussed the importance of rehabilitation management.

Attendees were encouraged to participate in group discussions on related DMD subjects including Care Considerations in Egypt and the use of steroids. Attendees were also asked to express their views on the challenges faced within their clinics and their struggles with the diagnosis and management of DMD patients.

The presentations from the event will be made available next month on their registry's website, which can be accessed here.

 
 
 
 
2018 Myotonic Dystrophy Foundation Annual Conference
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The annual Myotonic Dystrophy Foundation Annual Conference took place in September in Nashville, Tennessee. The conference brought patients, carers and professionals together to discuss networking, symptom management and research in DM1 and DM2. A number of presentations, and meetings were held by professionals and academics from around the world, as well as representatives from industry.

Presentations included research updates, patient presentations, feedback from caregivers, discussion of the management of symptoms, disease progression and a number of poster presentations.

The Conference provided an opportunity for international collaboration. A breakfast meeting was organised by Craig Campbell MD (TGDOC Chair-Elect) and the TREAT-NMD Secretariat, to discuss patient registries and opportunities for improvement, development and collaborative work. Patient Registry Curators, representing many different countries, presented updates on their respective registries providing information on the structure and performance of their registries.

Jassi Sodhi, a research physiotherapist within the John Walton Muscular Dystrophy Research Centre, represented the TREAT-NMD Secretariat at the conference and stated 'it was pleasing to see the level of patient involvement at the conference. A number of patients either presented on a topic or had a stall in the open areas. A particular highlight for me was speaking to a couple of patients and their families who had written and published books on their experiences of living with Myotonic Dystrophy.'

For more information and to view the presentations and recordings from the conference please go to the website.

 
 
 
 
2019 TREAT-NMD Conference - how you can get involved
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The next TREAT-NMD conference will be taking place in Leiden from 9th-11th December 2019. The aim of this international event is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.

We are already in the process of beginning to organise many aspects of the conference but there is much to be done and we need your help! We are looking for TREAT-NMD members to volunteer to become part of our Conference Scientific Committee, which will be chaired by Annemieke Aartsma-Rus. The Committee will be tasked with the formulation of innovative content for the conference programme. We want to ensure the committee represents the wider NMD community so we would love to hear from patient organisations and industry as well as clinicians and scientists.

If you are interested in the role please complete the online form by 12th October. You will be asked to provide some contact information but also asked how you are involved in the NMD community, why you would like to be involved in the 2019 conference and what you can bring to the programme.

For more information, please visit our conference website.

 
 
 
 
CME Accredited Activities Supported by Educational Grants
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In September, the CME Accredited SMA Learning Centre was launched on the Elsevier CME Portal. The learning centre is a freely accessible platform that aims to increase clinical knowledge by providing Continuing Medical Education (CME) activities, research articles, and resources for health care professionals (HCPs) who treat patients with Spinal Muscular Atrophy (SMA).

The Chair for the learning centre content is Dr Richard Finkel and all content has been developed in collaboration with Dr Finkel, Dr Russell Butterfield, Dr Thomas Crawford and Dr Julie Parsons.

The new content elements are now the Interactive eLearning, the eInfographic and full articles are available to download.

In the coming weeks the Learning Centre will also publish an ePatient case and further details will follow in a future edition of the newsletter.

For more information please go to the website

 
 
 
 
World Without GNE Myopathy - Airtel Delhi Half Marathon 2018
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The Airtel Delhi Half Marathon is one of the largest marathons in the world. It is also one of the largest platforms for charitable giving in India.

World Without GNE Myopathy (WWGM) is a charitable organisation, headquartered in Delhi, which is dedicated to finding therapies for GNE Myopathy and supporting patients with the disease. WWGM is run entirely by patients and their families and has achieved much since its inception including the provision of a common platform for healthcare professionals and researchers, connecting patients across the globe, actively influencing government policy on rare disease and providing representation in the Delhi Government’s Rare Disease Committee. "We are participating in ADHM to give a voice to patients diagnosed with rare diseases likes GNE Myopathy. There are 7000 such conditions which affect many people in India. Rare diseases are chronic and severe, often causing complete disability (being bound to a wheelchair) or death. However, people diagnosed with these diseases find little support in society.”

In October, individuals will have the opportunity to lend their voice and support people living with rare conditions either through running in the marathon and raising funds or through online and financial support of the WWGM runners.

For more information about the WWGM please visit their website

 
 
 
 
Volunteers needed to translate the SMA Family Guide
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Following the publication of the SMA Care Recommendations in January 2018 (Diagnosis and Management of Spinal Muscular Atrophy Part 1 and Part 2), TREAT-NMD, MDUK, SMASupportUK, SMA Europe and Cure SMA have been working to develop a medical guide for families, known as the 'SMA Family Guide'. Everyone involved has invested considerable effort into drafting the family guide and the UK English version is now nearing the stage of completion. It is our intention to have the SMA Family Guide available in as many languages as possible and to achieve this we require the support and expertise of the neuromuscular community.

If you have the necessary skills and would like to volunteer your time to assist in the translation of the family guide into your native language then complete this form.

If you have any questions or would like any further information please contact the SMA Project Co-ordinator, Nicole O'Connor.

On behalf of TREAT-NMD we thank you for your support.

 
 
 
 
Events
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Clinical Practice Guidelines for Rare Diseases: development and quality assessment

9th - 10th October 2018

Instituto Superiore di Sanita, Rome, Italy

The course is intended to promote guideline quality standards in rare diseases and to support the European Reference Networks (ERNs) in their capacity to produce and assess clinical practice. The course will provide participants with the skills necessary to develop and appraise clinical guidelines for rare diseases by using international methods and tools such as GRADE and AGREE.

 

American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM)

10th - 13th October

Washington D.C, USA

The American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) will be hosting the 2018 annual educational meeting. The meeting is open to AANEM members and non-members involved in neuromuscular and electrodiagnostic medicine.

The meeting will focus on improving patient care, medical knowledge, interpersonal communication, professionalism, and systems-based practices. At the end of the meeting, organisers aim for attendees of the meeting to be able to:

  • Explain the pathophysiology of neuromuscular diseases, in reference to new and novel therapeutic targets.
  • Describe the drug development pathway leading to present day novel therapies
  • Identify the impact on EDX testing on achieving proper neuromuscular diagnoses
  • Relate the social and societal impact of expensive novel therapies for rare neuromuscular diseases
  • Differentiate the emerging rehabiliative challenges of progressive and fatal diseases as they transition to chronic conditions.

 

MDUK National Conference

13th October 2018

London, UK

Muscular Dystrophy UK (MDUK) have announced that their National conference will take place on 13th October at the Hilton London, Tower Bridge. The conference will give attendees the opportunity to hear the latest in research from world-renowned researchers. Patients and their families will be able to meet other families living with muscle-wasting conditions, take part in workshops and find out about work currently being carried out by MDUK.

 
 
 
 
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8th October 2018
TREAT-NMD Newsletter - 8th October 2018
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