unsubscribe | view this newsletter online | full newsletter
28th February 2019
 
Rare Disease Day 2019

Today is the 12th international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities.

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Rare Disease Day events are organised by hundreds of patient organisations all over the world who work on a local and national level to raise awareness for the rare disease community in their countries. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world, reaching hundreds of thousands of people and resulting in a great deal of media coverage. We especially thank our official Rare Disease Day partners, the National Alliances. These are umbrella organisations who group together several rare disease organisations in a given country or region.

The campaign started as a European event and has progressively become a world phenomenon, with the USA joining in 2009 and participation from over 90 countries all over the world in both 2017 and 2018. Hundreds of cities continue to take part in Rare Disease Day and we hope even more will join in 2019.

The first Rare Disease Day was celebrated in 2008 on 29th February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days. On rarediseaseday.org you can find information about the thousands of events happening around the world on the last day of February. If you are planning an event, register your event details on the Post your Event page to get your event listed on the dedicated site!

To find more information on Rare Disease Day, and to find out how you can get involved, please go to the dedicated website https://www.rarediseaseday.org/article/get-involved

 
 
 
The Big Sunflower Project
back to top    

The Big Sunflower Project aims to raise awareness of the rare neuromuscular conditions centronuclear and myotubular myopathy by growing sunflowers. The project is an initiative of the Information Point for Centronuclear and Myotubular Myopathy which has provided information and raised awareness of the conditions since 2001.

Sunflowers have appeared on the Information Point website for many years now - they were chosen for the cheery and positive outlook they convey, growing to such dizzy heights, as if they are on a mission to touch the sky and nothing can hold them back.

Since 2011 The Information Point has given away sunflower seeds in return for photos. The photos raise awareness of centronuclear and myotubular myopathy in two ways, firstly by sending seeds to people who have never heard of centronuclear and myotubular myopathy and secondly by displaying photos of the sunflowers on The Information Point website, in newsletters and on social media.

Take photos and share

All they ask in return for their seeds is that people share their photos - these can be photos of you planting your seeds, photos of your flowers as they grow or when they have flowered. Sharing the photos helps The Information Point raise awareness of centronuclear and myotubular myopathy, as well as allowing participants the opportunity to see the sunflowers being grown by others taking part in the project. Photos may be displayed on the project website, in the Information Point newsletter and on Facebook, Twitter, Flickr and Instagram. The photos also help evidence the achievements of the project when funding is required and successful funding applications mean the project can continue each year.

They are keen for as many people as possible to get involved in The Big Sunflower Project, so please feel free to share your seeds with family, friends and neighbours. In this way it is hoped that the project will educate people about centronuclear and myotubular myopathy - both those who grow the sunflowers and those who see the photos, as well as being a bit of fun.

For more information please go to the Big Sunflower Project website https://thebigsunflowerproject.com/

 
 
 
 
Last chance to register for the TREAT-NMD Masterclass in Duchenne muscular dystrophy!
back to top    

The 5th masterclass in Duchenne muscular dystrophy (DMD) will stop accepting applications on 1st March. The fully-funded, 2-day training and education opportunity will take place at the Movenpick Hotel Amsterdam City Centre, the Netherlands, on Thursday 16th and Friday 17th May 2019.

The masterclass is suitable for health care professionals and researchers who are involved in DMD care and research (both paediatric and adult). The draft programme can be seen here: http://www.treat-nmd.eu/events/752/

If you would like to apply for a place, please complete the application form:

http://www.treat-nmd.eu/events/752/

Travel and accommodation will be covered and places are highly competitive so it is important that this workshop will have significant impact on your work. Places will be allocated based on the widest benefit to the DMD patient community and will be decided on by the TREAT-NMD Education Committee (TEC).

This Masterclass is supported through donations from Sarepta and PTC Therapeutics.

If you have any questions please contact the DMD Liaison Officer Cathy Turner at the John Walton Muscular Dystrophy Research Centre, Newcastle University, UK: catherine.turner@ncl.ac.uk

Closing date for applications is 1st March 2019

 
 
 
 
Conect4children call for expert members
back to top    

Conect4children (c4c) is an EU funded pan-European consortium with the ambitious aim of facilitating the development and availability of new medicines for babies, children and young people through the creation of a large collaborative paediatric network. One important task of the consortium is to deliver the advice needed to improve child health and paediatric medicine development. A number of disease specific expert groups, as well as cross cutting groups for neonatology, adolescent medicine and an innovative methodology group, will be established to provide expert advice on clinical trial design.

c4c would like to invite you to apply for membership of a clinical or methodology Expert Group in your area of paediatric drug research. Groups of experts (methodological, clinical and parents/patients) will be set up to provide Strategic Feasibility advice in response to individual requests from pharmaceutical industry and academic consortia in conducting feasible, innovative and scientifically sound paediatric clinical trials.

If you are interested in applying for membership of any of the clinical or methodology expert groups and would like to read the full call for experts, please click here. If you would like further information about the Neuromuscular Clinical Expert group, please contact Joanne Lee.

 

 
 
 
 
SMArtCARE Platform Goes Live!
back to top    

TREAT-NMD Executive Committee Chair, Professor Jan Kirschner, has kindly provided the following update on the SMArtCARE project; the first registry to go live using the OpenApp software which will also be used for the TREAT-NMD platform.

SMArtCARE aims to collect longitudinal data on all available SMA patients independent of their actual treatment regime as disease-specific SMA registry. Data is collected during routine patient visits as real-life outcome data and all items for data collection are aligned with the TREAT-NMD consensus for SMA registries.

An online platform specifically for SMA patients, was developed with the assistance of healthcare professionals. The aim of theplatform is not only to collect data but also to support the care of SMA patients with a standardized anamnesis questionnaire. The questionnaire was developed in  accordance with the published standards of care.

SMArtCARE strives to establish a research network among neuromuscular centres to share experience with SMA patients and to collaborate in research projects. So far, about 50 neuromuscular centres in Germany, Switzerland, and Austria have confirmed their participation so that data from approximately 1,000 patients is expected within the next few years.

A detailed description of this project has been published recently in Orphanet Journal of Rare Diseases: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-0998-4

 
 
 
 
TREAT-NMD Executive Committee Nominations
back to top    

In accordance with our charter, the TREAT-NMD Alliance Executive committee are seeking to appoint an additional patient representative to join the Executive Committee.  A nomination form will be sent out to TREAT-NMD members on Friday 8th March 2019. The deadline for receiving nominations is Friday 5th April 2019. Both self-nominations and nominations by others are welcome.

All TREAT-NMD Alliance members will then be asked to vote for their preferred candidates. The successful candidates will join the TREAT–NMD Alliance Executive Committee to help with the strategic planning and direction of the Alliance.

Roles and responsibilities of Executive Committee Members

Overview

The Executive Committee is responsible for providing overall policy and strategic direction to the TREAT-NMD Alliance, oversees activities and progress, and delegates responsibility for day-to-day operations to the representatives of the various Activity Groups. The Executive Committee will have no more than 13 and no fewer than 8 members. The Executive Committee receives no compensation other than reasonable expenses. Members of the Executive Committee are elected as private individuals and not representatives of their home institution or organisation.

Main roles and responsibilities

  • Represent TREAT-NMD at conferences and events
  • Promoting TREAT-NMD by including slides in presentations at appropriate events.
  • Take responsibility for delivering areas of the Action Plan Commitment
  • Provide advice, opinion and expertise on issues raised at monthly meetings
  • Suggest ideas about the work of TREAT-NMD

Commitment

  • Commit to participating in monthly teleconferences- duration 1-1.5 hours per month
  • The Executive Committee will meet at least annually face to face
  • All Executive Committee members will serve 2-year terms, but are eligible for re-election, with at least three Executive Committee positions up for rotation every 2 years.

If you are representing patients with neuromuscular conditions and are interested in helping us to move towards better treatments and care, then please consider becoming a member of the Alliance’s Executive Committee. For more information and to apply to become a TREAT-NMD member, please click here

 
 
 
 
European Neuromuscular Centre Workshop Applications - Deadline
back to top    

ENMC has a unique concept for faciliating and organising workshops for experts in the field of neuromuscular conditions. Every month a group of 20-25 researchers, clinicians, patients and industry representatives, come together in a meeting venue in the Netherlands to exchange state of the art knowledge of and experiences with a neuromuscular condition. Amongst the main deliverables of these workshops are:

  • a full publication in the journal of Neuromuscular Disorder to diseminate workshop outcomes to other researchers and clinicians working in the field.
  • a lay report on the ENMC website to inform patients and their families about what has been achieved at the workshop.
  • participant networking and collaboration
  • to define trial readiness and outcome measures
  • consensus about guidelines for diagnosis, therapy and care.

The full workshop programme can be found on the ENMC website.

ENMC workshop applications can be submitted throughout the year. The next deadline for sending in applications for workshops is 1st March 2019.

The forms to be completed for a workshop application can be downloaded here

If you would like the office to preview your application on completeness and accurateness, please submit your application anytime but at least 2 weeks before the submission deadline, as incomplete applications and applications submitted after the deadline, will not be processed.

For more information please go to the ENMC website - https://www.enmc.org/workshops/how-apply

 
 
 
 
New Issue of the Journal of Neuromuscular Diseases
back to top    

A new issue (volume 6, issue 1) of Journal of Neuromuscular Diseases (JND) has been published. JND is dedicated to providing an open forum for original research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. The journal also aims to support the development of important tools for clinicians and scientists in the field.

The new issue features an open access article about a new drug for DMD, a press release for which can be found here. The Journal has also published a position paper which offers expert consensus on the need for change in the approach to research and management of neuromuscular disease. The paper describes the conclusions reached at an international workshop that focused on finding creative solutions to integrate and enhance the patient’s point of view in neuromuscular research. The press release for the paper can be found here.

To be sure to be kept up to date JNDs news and content, you can sign up to receive the newsletter here.

 
 
 
 
Symposium on Muscle-Bone Interaction in Duchenne Muscular Dystrophy - Friday 21st June 2019
back to top    

A symposium on Muscle-Bone Interaction in Duchenne Muscular Dystrophy is taking place on 21st June 2019 at the St Virgil Conference Centre, Salzburg, Austria.

This symposium is organised in collaboration with the John Walton Muscular Dystrophy Research Centre  at Newcastle University with generous support from Duchenne Parent Project, Netherlands and Parent Project Muscular Dystrophy.   This a satellite symposium to the International Conference for Children's Bone Health (ICCBH)  and is held the day preceding the 9th ICCBH Meeting.

Aim:

The aim of this symposium is to focus on bone health in DMD, including the updated standards of care (2018) and emerging clinical research in the area.   In particular, this symposium aims to disseminate discussions of the recent 236th European Neuromuscular Centre International Workshop (1st - 3rd June 2018) on developing osteoporosis clinical trials in DMD to a wider audience.  The impact of new osteoporosis agents and emerging muscle investigative agents on bone development will be discussed.

Target Audience:

The target audience of this workshop includes clinicians (medical and allied health), translational and basic researchers in the bone and neuromuscular fields.   It is hoped this symposium will gather neuromuscular and bone/endocrine experts together to work towards implementing the updated standards of care and to discuss the path forward to mitigate the extent of skeletal morbidity in DMD.

Content:

This workshop is an educational scientific forum with a panel of experts, aiming to to address the following main aspects :

◾An update on the muscle and bone cross talk in the context of neuromuscular conditions

◾The extent of osteoporosis in DMD and implementation of the updated bone/endocrine international standards of care (2018)

◾New bone therapeutic agents in DMD and glucocorticoid-induced osteoporosis

◾Investigative agents in DMD trials and impact on skeletal development

◾Discussion on collaborative projects and research in the area

This symposium has been adopted as a satellite symposium to the International Conference for Children’s Bone Health held in Salzburg, 22nd-25th June 2019, www.iccbh.org

To register for the event you can do so via the event website: https://duchenne.nl/workshop-muscle-bone-salzburg/

For more information please go to the symposium website - https://www.gla.ac.uk/schools/medicine/research/childhealth/muscle-boneinteractioninduchennemusculardystrophy2019/

 
 
 
 
Institute of Myology seeks Project Manager and Project Assistant
back to top    

Organisation: Intitute of Myology

Location: Paris, France

Position: Project Manager

This management post within the Institute of Myology leads the strategic development and delivery of the EU-funded project European Reference Network (ERN) EURO-NMD to ensure the deliverables and objectives of this multinational project are achieved. This role will require an overarching view on all relevant international activities and liaising closely with key stakeholders to ensure the needs and input of EURO-NMD are coordinated and addressed. This will be achieved by providing a point of contact and comprehensive professional support service, on an international level, between the European Commission, local, national and international experts. It includes direct line management and development of the coordination team as well as the overall coordination of 61 European Health Care Providers (HCP), the Patient Advisory Group (PAG) and a smaller Executive board. The post holder reports internally to the EURO-NMD Coordinator (PI), with external responsibility to the European Commission, and is supported by the EURO-NMD coordination team.

This fixed term contract, based at the Institute of Myology (Hôpital Pitié Salpêtrière, Paris 13) is to be filled on a full-time basis.

More information can be found on the Institute of Myology website http://www.institut-myologie.org/en/job-opportunity/offres-en-ligne/

 

Position: Project Assistant

Supervised by the Coordinator and Project Manager the main objective of this post is to provide support to the European Reference Network, EURO-NMD, and the Coordination team. This role will provide administrative support to the Coordination team at the Institut de Myology.

Main Duties and Responsibilities

  • Provide comprehensive organisational support to the EURO-NMD team.
  • Act as first point of contact for the team, dealing directly with email and telephone enquiries.
  • Provide comprehensive administrative support.
  • Organise, maintain and continuously review office procedures (e.g. clerical support, filing, databases).
  • Organise travel, accommodation and registration arrangements.
  • Manage and monitor systems to ensure a smooth day-to-day working environment.
  • With the Project Manager, and the Institute finance team, take responsibility for documenting project spending and handling purchase requisitions for network-related costs.

This fixed term contract, based at the Institute of Myology (Hôpital Pitié Salpêtrière, Paris 13) is to be filled on a part-time basis.

More information can be found on the Institute of Myology website http://www.institut-myologie.org/en/job-opportunity/offres-en-ligne/

 
 
 
 
Events
back to top    

Both TREAT-NMD organised events, and those organised by external parties, will be listed below.

 

Advances in Skeletal Muscle Biology in Health and Disease

6th - 8th March 2019

University of Florida, USA

This conference is well suited for informal interactions and the presentation of data that might be too preliminary for a larger audience. Overall, the goal is to facilitate advances in skeletal muscle biology through discussions that promote new ideas, research lines and collaborations.

Early Bird Discount Registration is currently available for the 2019 conference held at the University of Florida.

For more information, please click here

 

AFM - Telethon Scientific Congress in Myology

25th - 28th March 2019

Bordeaux, France

AFM-Téléthon is pleased to announce that their scientific congress in Myology will take place between 25th-28th March 2019. The congress will take place in Bordeaux, France.

More than ever, therapeutic innovation will be at the heart of this event in all its aspects: gene therapy, pharmacogenomics, gene surgery and others.

The successful research conducted in nerve and muscle physiology, and in neuromuscular disorders in general, as well as the multiplication of clinical trials involving hundreds of patients worldwide are now bearing fruit. The first effective treatments are now available for patients, and ongoing trials are more than ever a synonym for hope and victories to come. We know it, a new era is opening up for our diseases that were regarded as incurable until recently, and MYOLOGY 2019 will reflect this change of paradigm for sure.

For more information, please click here

 

11th Annual Neuromuscular Translational Research Conference

4th- 5th April 2019

Newcastle, UK

The MRC Centre for Neuromuscular Diseases is pleased to announce the 11th Annual Neuromuscular Translational Research Conference will take place from 4th - 5th April 2019 at the International Centre for Life in Newcastle upon Tyne.

For more information on registration, the conference programme and abstract submission please click here

 

The Egyptian School of Neuromuscular Disorders

8th - 10th April 2019

Training and Development Center, Ain Shams University Hospital, Egypt

Organised by the Neuromuscular Unit the event, which is aimed at young neurologists, paediatricians, internists and physiotherapists, seeks to increase knowledge around the basics of neuromuscular disorders and provide an update to those within the field. A number of experts from across Europe will attend to discuss their experience and share expertise, including Professor Albert Ludolph (Ulm University, Germany), Professor Bjarne Udd (Tampere University, Finland), Professor Andoni Urtizberea (Founder of Summer School of Myology, Hendaye Hospital, France) and Professor Edoardo Malfati.

The deadline for applications is 15th March 2019. If you would like to register to attend the event, or you would like more information, please contact Professor Nagia Aly Fahm or you can go to the event webpage.

 

1st International Conference of the Neuromuscular Chapter of Egyptian Society of Neurology, Psychiatry and Neurosurgery (ESNPN)

11th - 12th April 2019

Renaissance Cairo Mirage City Hotel, Egypt

The conference aims to provide Egyptian Neurologists with the most up to date information related to the diagnosis and therapies of various rare neuromuscular conditions. Guest speakers from across Europe and Egypt will be in attendance to discuss their experience and share their expertise including Professor Albert Ludolph (Ulm University, Germany), Professor Bjarne Udd (Tampere University, Finland), Professor Andoni Urtizberea (Founder of Summer School of Myology, Hendaye Hospital, France) and Professor Edoardo Malfati.

The deadline for abstracts is 15th March 2019. Abstracts should be emailed to Operation2@misr2000online.net or khalid@misr2000online.net

For more information please contact Professor Nagia Aly Fahmy

 

TACT Meeting

12th - 13th April

Glasgow, UK

Of the many promising research results presented at conferences, published in journals and hailed as the basis for possible future treatments and cures, few progress into clinical trial. Evaluating the therapeutic potential of drugs seemingly ready for this step is a challenge not only for the patients who build hope on preclinical results and for the potential funders and industry sponsors of the research, but also for the researchers themselves.

Established in 2009, the TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary international group of well recognized academic and industry drug development experts as well as representatives of patient foundations and institutional governmental scientific research centers, who meet twice a year to review and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases with large unmet need, such as muscular dystrophies and amyotrophic lateral sclerosis (ALS).

The confidential and comprehensive review provides recommendations including go-no-go milestones and is independent of any funding stream however it may enable subsequent funding.

If you are interested in submitting an application to TACT, please contact Cathy Turner.

 

2019 MDA Clinical and Scientific Conference

13th - 17th April 2019

Orlando, Florida

The Muscular Dystrophy Association (MDA) is pleased to invite you to participate in the 2019 MDA Clinical & Scientific Conference on April 13-17, 2019, at the Hyatt Regency Orlando.

2019 will be an exciting year for MDA! We will converge our long-standing Clinical and Scientific conferences into our inaugural combined annual meeting, which will leverage MDA’s extensive reach into the scientific, clinical research, and clinical practice communities to bring together the world’s leading experts in neuromuscular disease.

As the most comprehensive neuromuscular disease meeting in the United States, it represents the full spectrum of scientific researchers, medical professionals, and decision makers. Our focus in 2019 will be to leverage the expertise of researchers, clinicians, and allied health professionals to accelerate drug development and advance best practices in care management across more than 40 neuromuscular diseases.

As an exhibitor and supporter, the 2019 Annual Meeting offers unequalled opportunities to be among other leaders in the healthcare industry to meet with and showcase your products and services to the neuromuscular disease scientific and medical community while you support MDA’s Mission – to transform the lives of individuals living with neuromuscular disease.

For more information, please click here


 
 
 
28th February 2019
TREAT-NMD Newsletter - 28th February 2019
unsubscribe | view this newsletter online | full newsletter