Newsletter - April 2020 ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏
|
|
ERN EURO-NMD - COVID-19 update
| |
As the European Reference Network for Neuromuscular Diseases we are trying to understand track the effect COVID-19 is having on the neuromuscular community.
Some of the patients with a neuromuscular disease can be more vulnerable to COVID19 infection. Still much needs to be learned about the indications for NMD patients and how to act in case of COVID 19 infection. Also, the approaches in each country may be different. Therefore, we would like to know how this crisis is being handled all over Europe. This may help in the management of our patients and will help to give patients the best possible care across all countries.
To do this we have developed two short surveys.
Firstly, there is a patient focused survey, this has now been developed further from its original iteration and aims to find out about how COVID-19 affects those people with neuromuscular conditions.
Additionally, the short survey about medical centres aims to find out what plans and procedures have been put in place.
We are also developing an area where we want to share COVID-19 related information that we think might be of interest to the neuromuscular community. This can be found here.
|
|
|
|
|
|
EURO-NMD Board Meeting 2020 moves to online format
|
|
With the recent COVID-19 outbreak worldwide many upcoming meetings and conferences have been cancelled, postponed or moved to an online format. Sadly, our summer board meeting is no exception to this latest convention. For reasons of safety and because of the ongoing travel restrictions across Europe, we have decided to move our meeting to an online format. We are currently working hard to adapt the agenda we had set out to now work in an online environment and it will be available shortly along with further logistical details. We originally decided to meet in Valencia as many network members will have been attending ICNMD and the postponement of the 2020 congress has also influenced our decision to 'go online'. We are deeply disappointed not to be meeting face to face at this time, but we hope to meet many of you later in the year in Budapest for our annual meeting.
|
|
|
|
|
|
Exercise in neuromuscular disease webinar
|
|
We were delighted with the number of people who attended our latest webinar.
Over 100 people enjoyed Nicole Voet deliver her webinar which was the largest audience we have ever had. Unfortunately, our webinar system only allowed approximately 100 people to attend at once meaning there were a small number of people who were unable to see Nicole's presentation as it happened. We wish to extend our apologies to those people who missed out. We simply didn't expect that many people would attend. The good news is that all of our webinars are recorded and then uploaded onto our website and this is no exception.
We are pleased to say this webinar is now available to stream from our website.
|
|
|
|
|
|
EURORDIS launches Rare Barometer survey on rare disease patients’ experience of COVID-19 9
|
|
EURORDIS have launched a survey as they wish to the understand community's experience of the COVID-19 pandemic.
The goal is to voice the specific needs of rare disease patients’ in relation to the COVID-19 pandemic and to propose practical solutions to ensure rare diseases patients are taken into account when handling the pandemic.
By collecting information on how the COVID-19 pandemic is affecting patients’ care, social care, employment situation and mental health, we will be able to better understand the impact of this unprecedented situation.
The survey will take around 15 minutes to complete.
|
|
|
|
|
|
Voices of Patients
This month, we introduce Michela Onali, who recently joined the Patient Advisory Board, and Patricia Blomkwist-Markens, who joined EURO-NMD as patient representative for the Peripheral Nerve Diseases working group. They tell us about their background, role and expectations of EURO-NMD.
|
|
|
|
|
|
|
Michela Onali
a. Tell us a little bit about yourself
I have always been a curious person with a proactive personality and predisposed to exploration and discovery of new places and new knowledge. I have a background in cross-cultural mediation and formal and non-formal education, so I’ve always enjoyed engaging in opportunities for cross-border collaboration aimed at facilitating open dialogue, knowledge sharing and mutual learning.
The day I received the diagnosis of GNE Myopathy, an adult onset muscle disease, I got immediately on the computer and started an endless online search. After several calls and e-mails I learnt about the GNEM Natural History Study and 3 weeks later after my diagnosis I was at the NIH. It was December 2013 and I clearly remember I had a strong feeling of appreciation for the patients who allowed researchers to tell me more about my disease. While trying to picture their faces, I started wondering about patients in my same position: “What if I did not speak English, what if I was not used to travel, what if I was not ready or in the position to take action for my disease”. I would read and continuously read scientific publications which lead to more and more readings and conferences, until I decided to take a more active role.
For me, unexpected or uncertain events have always resulted in a sense of wonder and a desire to explore them. GNE Myopathy has brought unexpected changes and knowledge as a patient but also advocate. Among these, my involvement in rare diseases and education opportunities like the EURORDIS Summer and Winter Schools have represented precious puzzles of this journey and contributed to shape the role I want to have as a patient representative. Getting actively involved for GNEM was a natural process, as it also was joining the rare disease community, because when you are a rare disease patient your journey and learning process easily becomes a mutual learning process, a joint effort and a shared need to work together.
I am now involved in different working groups centred around patient engagement in research and decision-making, and currently participating in the 4th edition of the EUPATI training course. My discovery process continues every day and keeps empowering me to take action for real change in care and treatment for rare diseases.
b. What is your role in EURO-NMD?
I closely work with the other patient representatives and the network to fully integrate patient voice and equal partnership in decision making, guarantee diversity of patients is always taken into account, and representativeness of the broad patient community is ensured. I help to identify and develop opportunities where patients can gain, use and transfer knowledge, but also feel integrated, act as full partners and a fundamental resource for research development, and meaningful collaboration at European, national and local level. I further help to identify gaps and barriers to capturing patient needs and embrace patient centricity in the healthcare ecosystem.
c. What are your expectations of the Network?
I believe EURO-NMD and patients need to engage in collaborative actions to successfully identify a shared vision and support concrete steps for tangible change at European, national and local level. I expect to see engagement of patients in decision-making processes, clinical guidelines development, the identification of innovative solutions, research gaps and in the promotion of interdisciplinary care and transversal clinical research. I feel we need to work also on a multi-stakeholder engagement plan, communication and outreach, and training and education for patients, researchers, present and future healthcare practitioners in order to consolidate knowledge and expertise also in regional areas, while establishing an inclusive, global and coordinated care and disease co-management approach which takes into consideration the diversity of needs of patients looking for a diagnosis and at different stages of disease progression.
|
|
|
|
|
|
| |
Patricia Blomkwist-Markens
a. Tell us a little bit about yourself
In 1990, while leading a very active life, practicing law, enjoying horseback riding and ballroom dancing, I found myself suddenly fully paralyzed, on the ICU, ventilated for more than a month, due to Guillain-Barré syndrome (GBS).
A visit from a recovered GBS patient lifted my spirits and gave me hope. It also made me wonder whether there was a support organization for GBS in my country and I vowed that if there was none, I would start a support group. After my recovery, I founded a group which later merged with Spierziekten Nederland, the Dutch neuromuscular patient organization.
At an early stage, I also became involved with the GBS|CIDP Foundation International. Initially, as a local volunteer (liaison), but within a few years as Regional Director, responsible for the Foundation’s international volunteers, and in 2005 as Member of the Board of Directors.
Both the Foundation and the Dutch group entertain excellent relations with the world’s leading experts on GBS and CIDP, which ensures a fruitful collaboration between patients and scientists, resulting in patient involvement in important research projects and publications. Over the years, it has been my privilege to represent the patient community on many occasions.
b. Why are you joining EURO-NMD?
On the basis of my personal experience and my involvement with both patients and experts during the past three decades, I am confident to be able to make a valuable contribution to the work of EURO-NMD. In rare diseases, collaboration between countries as well as collaboration between patients and the medical community, is indispensable to provide the best care for those who are affected by these disorders. I believe it is our duty to advocate on behalf of fellow patients who might not be able to obtain the best of care when faced with neuromuscular disorders.
c. What are your expectations of the Network?
The Foundation’s vision is that every person affected by GBS, CIDP, or related syndromes will have access to early and accurate diagnosis, appropriate treatment, and knowledgeable support services. I fully endorse this vision and I firmly believe that EURO-NMD is an excellent instrument to accomplish this particular goal on behalf of all patients with these rare and terrifying disorders in Europe, therefore not only for those who have close and easy access to a center of expertise.
|
|
|
|
|
|
How are ERNs supporting their patients affected by rare diseases during the COVID-19 pandemic?
The ERNs are facing unprecedented challenges in helping patients affected by rare diseases who are also infected with covid-19 to receive the care and treatment their specific situation requires. Several ERNs have set up targeted initiatives to help patients affected by rare diseases and COVID-19.
|
|
|
|
|
We are looking for a help desk assistant
|
|
Do you fancy joining our team?
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its goal: Promote Myology and have it accepted as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic research, applied research, clinical research and teaching. Main Purpose The main objective of the post is to provide helpdesk support to the European Reference Network, EURO-NMD, and the Coordination team. This role will support the administrative systems and platforms which facilitate this network and to provide support to the Network Partners and Coordination team at the Institute of Myology.
Further details and job description in English
Further details and job description in French
|
|
|
|
|
|
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the RAB7A gene, involved in the late endocytic pathway. CMT2B is characterized by predominant sensory loss, ulceromutilating features, with lesser-to-absent motor deficits. We characterized clinically and genetically a family harboring a novel pathogenic RAB7A variant and performed structural and functional analysis of the mutant protein.
|
|
|
|
|
Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants
A 58-year-old woman presented with a 30-year history of progressive ataxia, dysarthria, and bilateral leg spasticity. Neurologic examination revealed involuntary movement of the uvula and soft palate at 2–3 Hz. Brain MRI showed only cerebellar atrophy.
|
|
|
|
|
T2 relaxation-time mapping in healthy and diseased skeletal muscle using extended phase graph algorithms
Multi-echo spin-echo (MSE) transverse relaxometry mapping using multicomponent models is used to study disease activity in neuromuscular disease by assessing the T2 of the myocytic component (T2water). Current extended phase graph algorithms are not optimized for fat fractions above 50% and the effects of inaccuracies in the T2fat calibration remain unexplored.
|
|
|
|