19th November 2018
Updated Standards of Care for Myotonic Dystrophy (DM1)

Myotonic Dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of DM1 patients, and most do not have access to multidisciplinary care centres staffed by experienced professionals, creating a clinical care deficit. In response to this, a consensus document entitled "Consensus-based care recommendations for adults with myotonic dystrophy type 1" has been published in the 'Neurology Clinical Practice' journal.

The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop the consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4 page Quick Reference Guide and a comprehensive, document that provides clinical care recommendations for 19 discrete body systems and/or care consideration.

The resulting recommendations are intended to help standardise and elevate care for the DM1 patient population and reduce variability in clinical trial and study environments.

The full recommendations can be found here.

TREAT-NMD Masterclass in Duchenne Muscular Dystrophy - SAVE THE DATE!
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We are thrilled to announce that TREAT-NMD will be delivering their 5th Masterclass in Duchenne Muscular Dystrophy (DMD). The DMD masterclass will be taking place between 16th and 17th May 2019 in Leiden, The Netherlands.

The Masterclass is suitable for health care professionals and researchers who are involved in DMD care and research (paediatrics and adults).

Places are highly competitive so please keep checking the TREAT-NMD website, newsletter and Twitter feed (@TREAT-NMD) for updates.

If you have any questions please contact DMD Liaison Officer Cathy Turner.

Call for abstracts - 12th UK Neuromuscular Translational Research Conference
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The 12th UK Neuromuscular Translational Research Conference 2019 will be taking place in Newcastle, UK on Thursday 4th and Friday 5th April 2019.

Hosted jointly by the MRC Centre and Muscular Dystrophy UK, the conference is designed to engage both neuromuscular clinicians and scientists, nationally and internationally. Highlights will include:

  • Showcasing the best and latest developments in neuromuscular science, and their translation into patient benefit
  • UK and international speakers to provide state of the art overviews
  • Platform and poster presentations from submitted abstracts
  • Reception and dinner
  • Reduced registration fee for non-clinical trainees

Participants have until 8th January 2019 at 5pm to submit their abstracts, they must be emailed to cnmd.contact@ucl.ac.uk and follow the guidance which can be found on the conference website. Participants can also register and find a link to the draft conference programme.

TREAT-NMD Global Database Oversight Committee (TGDOC) Chair Elect - Expressions of Interest
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Our TREAT-NMD Global Registries are governed by the TREAT-NMD Global Database Oversight Committee (TGDOC). The current TGDOC Chairs are Nathalie Goemans (Chair), Craig Campbell (Chair Elect), and Hugh Dawkins (Outgoing Chair). During the upcoming TGDOC Webinar on 26th November, Nathalie will step down after 2 years of excellent leadership, and move to the position of Outgoing Chair. Craig will become the new Chair, and we will say a fond farewell to Hugh.

Therefore, we must appoint a new Chair Elect, and we would like to invite Expressions of Interest from any TREAT-NMD members who have an interest in the role.

The role entails:

  • Commitment for two years as Chair Elect, followed by two years as Chair, and then two years as Outgoing Chair.
  • Participation in fortnightly calls between the TGDOC Chairs and the Secretariat.
  • Input into the governance of the TGDOC and associated projects as required.
  • Attendance at relevant meetings and conferences where possible.
  • Please note that if you do not currently have a CDA in place with Newcastle University, you must commit to establishing one before taking up this role.

If you would like to be considered for the role of TGDOC Chair Elect, please complete the online form before Friday 14th December

New Global FKRP Patient Registry Newsletter
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The new Global FKRP Patient Registry newsletter (October 2018 edition) has been published and can be viewed online.

The newsletter is issued as a way of informing patients, families, doctors and researchers, about registry activity and other news relevant to the FKRP community.

The latest edition includes:

  • Overview of the FKRP Patient Registry
  • Patient stories
  • Research updates
  • Renaming of the Limb Girdle Muscular Dystrophies

For more information on the FKRP Patient Registry, including how to participate or contribute to future editions of the newsletter, please contact Lindsay Murphy

Coalition to Cure Calpain 3 - C3 Scientific Conference 2018
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On September 12-13, 2018, Coalition to Cure Caplain 3 hosted the "C3 Scientific Conference" in Arlington, Virginia.

In attendance were prominent neuromuscular clinicians, world-renowned research scientists from academia and industry, and representatives from various funding agencies. This included C3's Scientific Advisory Board and C3 grant recipients.

The goal of the conference was to gather key experts for scientific discussion focused around increasing our understanding of LGMD2A and preparing for future clinical trials in order to accelerate the development of a therapy for this disease. The topics of the sessions included:

  • Pre-clinical models for LGMD2A
  • Registries and genetic testing
  • Outcome Assessments and biomarkers
  • Muscle building
  • Gene therapy and gene editing

To learn more about Coalition to Cure Calpain 3 and the research they are funding to find a cure and treatment for LGMD2A/Calpainopathy you can visit the website.

New issue of Journal of Neuromuscular Diseases
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A new issue of the Journal of Neuromuscular Diseases (Volume 5, issue 4) has been published this month. The November issue of the Journal contains articles on:

  • A Project to Improve How we Advance Duchenne Muscular Dystrophy Therapies to the Clinic
  • Home-based monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystrophy
  • Respiratory Assessment of ALS Patients: A Nationwide Survey of Current Dutch Practice
  • How to interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies?

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.

TREAT-NMD Website - We need you!
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Are you a regular visitor to the TREAT-NMD website? Can you always find the information you need? What would you change if you could?

The TREAT-NMD Secretariat has begun work on updating the TREAT-NMD website but to help us redesign and formulate a user friendly experience we need the input of the wider TREAT-NMD community. You can help us by completing the website survey. It will only take a few minutes to complete and your input will be valuable. You will be asked questions on how often you visit the website, what you like and dislike most about the website, the features which are important to you etc.

If you would like to share your opinions with us you can do so via the online survey.

Global Registry for COL6-Related Dystrophies
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The Global Registry for COL6-related dystrophies is now accepting patient registrations in English (French translation is expected to be available before Christmas with Spanish, Italian, German, Dutch and Polish planned for 2019).  The registry is funded by the Collagen VI Alliance and will support research and trial readiness for the COL6-RDs  (Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy or an intermediate form of these conditions).

The registry allows patients to self-register and consent online.  The registry also has a clinical element which allows healthcare professionals to enter data on behalf of their patients.  The registry has ethical approval from NHS REC and Newcastle University.

More information about the registry and how to join can be found at www.collagen6.org and the project manager, Dr Alison Blain, can be contacted at Alison.Blain@ncl.ac.uk or collagen6registry@ncl.ac.uk. Please also contact Alison if you are a clinician who is interested in becoming a registry user or who would like to receive leaflets about the registry for your clinics.

Relaunching of the TGDOC Quarterly Newsletter
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The TREAT-NMD Global Database Oversight Committee (TGDOC) is relaunching its quarterly newsletter.

The first issue will be published at the end of January 2019 and will be a report on the latest TGDOC activities and registries related news items.

If you would like to subscribe you can do so via the online form. If you would like to submit an article for the newsletter please contact Hannah Murray.

Clinical Research Fellowships in Neuromuscular Diseases
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The John Walton Muscular Dystrophy Research Centre are seeking 3 Clinical Research Fellows. This is an exciting opportunity to join on of the world leading centres for Neuromuscular research.

All posts benefit from strong international collaborations and provide opportunities to contribute to scientific conferences, publications and audit projects.

Responsibilities include:

  • Patient Recruitment
  • Clinical Assessments
  • Participation in Neuromuscular clinics

The following opportunities are available:

Key Requirements

The candidates must have a degree in medicine or equivalent and must have a full GMC licence to practice. Candidates should have experience of and commitment to multidisciplinary working. The candidate is expected to have proven ability to organise and prioritise workload, work and communicate effectively within a team environment and use own initiative.

For informal enquiries please contact Becky Crow.

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SMA Masterclass

19th - 20th November 2018

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 (HCPs) 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 please note places for health care providers will be given priority.

More information can be found here


8th World Congress on Rare Diseases and Orphan Drugs

21st - 22nd November 2018

Paris, France

The upcoming European Orphan Drug Conference has been designed around the theme of "Challenges & Opportunities in Orphan Drug development, commercialisation, policies, reimbursements and pricing."

This Rare Diseases & Orphan Drugs Conference aims to provide the best platform to all the researchers working in Rare Diseases & Orphan Drugs Research, Orphan Drugs developers, Healthcare sector, regulatory & health authorities, patient organisations, patient advocacy, Clinical Trials & Research, and public policy individuals.

This Orphan Drugs & Rare Diseases Congress 2018 Europe will offer a proper platform will provide a unique platform for all the stakeholders in the Orphan Drug Industry sector to discuss current issues, trends and innovations in Rare Diseases Research & Orphan Drugs development and to network with hospitals, Research labs, Pharma-Biopharma Companies, Orphan Drugs developers, and non-profit organizations etc.

This Orphan Drugs Congress 2018 composed of extended scientific sessions, Plenary sessions, Oral Presentations, Industry oriented sessions, Poster Presentations, Exhibitor sessions, Workshops, Symposiums, Young Research Forums, Videos Presentations and e-Poster Presentations etc.

More information can be found here


RAREFest 2018

30th November - 1st December 2018

Cambridge, UK

It’s 2018 and rare diseases are still not being consistently diagnosed, treated and supported effectively. Free to attend, this 2-day festival will shine a light on some successes and innovative solutions that are striving to address this. RAREfest will raise awareness of rare conditions and bring together all stakeholders in the rare disease community alongside the general public from across Cambridgeshire and beyond.

More information can be found here


World Congress on Rare Diseases 2018

5th - 7th December 2018

Dubai, UAE

Theme: Fighting Rare Diseases with Innovative Techniques

Rare Diseases ME Conferences takes a lot of privilege in welcoming all the participants from all the over the world to attend WORLD CONGRESS ON RARE DISEASES 2018 will be held from December 5-7, 2018 in Dubai, UAE, which includes provoke Keynote Presentations, Extraordinary Sessions, Workshops, Symposiums, Oral talks, Poster Presentations and Exhibitions.

More information can be found here

Grant Opportunities
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Muscular Dystrophy UK 2019 Grant Round

Closing Date: 18 January 2019

The Muscular Dystrophy UK (MDUK) 2019 Grant Round is now open. Funding is offered for 4 year PhD studentships and project grants up to 3 years (including shorter, proof of concept projects of up to one year) that have relevance to one or more type of muscular dystrophy or a related neuromuscular condition.

Funding is available for research applications that can demonstrate relevance to Muscular Dystrophy UK’s goals and objectives. This includes research that increases understanding of the underlying causes and mechanisms of muscle-wasting conditions, develops and evaluates potential therapeutic approaches, addresses the impact of muscle-wasting conditions on the quality of life of patients and families, or establishes best practice in symptom management. Please see MDUK’s Research Strategy for more information.

Whilst funding is only available for Principal Applicants who are based in the UK, international collaborations are strongly encouraged.

For more information please see the Muscular Dystrophy UK website or contact researchgrants@musculardystrophyuk.org

19th November 2018
TREAT-NMD Newsletter - 19th November 2018