Winter Newsletter – 2018

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Winter 2018

Dear all,
Welcome to our Winter newsletter! The past 6 months have been busy for SMA Europe. Here you will find out about our activities and member news:

Wishing you a very merry Christmas and all the best for the new year,


Vanessa Christie-Brown,
SMA Europe Coordinator

SMA Europe Activities

Bi-annual Meeting

The Board of SMA Europe held a successful bi-annual meeting in Bordeaux this October. Each industry with SMA programmes was invited for meetings with our working groups and to present updates to the Board as a whole. New scientific initiatives were agreed and new organisations welcomed as observer members (see below).  

Treasury news

We are however sad to announce that our Treasurer, Inge Schwersenz, will be retiring from her position as Treasurer from the new year. We would like to thank Inge for the years of dedication to this demanding role. Luckily, Inge will remain involved as part of the wider SMA Europe Board.

New Members
We were delighted to welcome two new organisations. Both will have the status of observer for a year, after which they will have the option to choose between full or associate membership.
  • Muskelsvindfonden is a Danish muscular dystrophy organisation, which will be represented by Henrik Ib Jørgensen at European level. 
  • SMA Serbia is an SMA organisation based in Serbia and represented at SMA Europe level by Marija Krstić.


Including our newest members, SMA Europe now includes 18 organisations in 17 countries across Europe. Organisations from other countries have begun the membership process and we look forward to updating you soon.

Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and other impairments. It has varying degrees of severity but in all cases, it causes progressive disability and dramatically impacts the lives of those affected and their families.

SMA Europe is the umbrella organisation founded in 2006 to represent the SMA community in Europe. Today, it represents patients across 17 countries in Europe. Our core objectives are to contribute to bring effective therapies to patients in a timely and sustainable way as well as to encourage optimal patient care.
For decades, SMA Europe and its constituent members financed research that has laid the foundation to get to where we are today: a commercially available, meaningful, targeted, therapy to treat SMA and several other promising compounds in clinical trials or in the pipeline.

SMA Europe is a valuable and knowledgeable participant with a genuine and transparent interest in this arena. SMA Europe expects to be respected as an equal stakeholder and as a consequence, to be involved in all aspects of the SMA therapy life-cycle. Our organisation and its members can provide first-hand knowledge and experience of the disease and of the unmet needs of the patient population. We contribute to the education on patients’ expectations, on the burden of living with the disease and on the potential economic and societal benefits of stabilising, or improving the health status of the SMA population. SMA Europe is currently working on identifying which aspects of patients’ lives are more impacted by SMA. This can provide important information that will help inform which therapy effects are the most meaningful to patients.   

SMA Europe also contributes to trials by providing a patient-centric perspective in their design. We provide, when possible, the patients’ perspective on the appraisal processes for drug approvals, so that the potential impact of a drug on patients’ everyday life and that of their families, is taken into account. Ultimately, we strive to form a patient-partnership with the different stakeholders involved in these processes.

The SMA community finds that currently, there is a gap between the safety and efficacy assessment of drugs and subsequent access to treatments, due to pricing issues. This is the reason why SMA Europe believes there is an urgent need for a more transparent system of how prices are decided upon, and how agreements on reimbursement are reached. Pricing and reimbursement schemes of new medicines must include ethical and practical consumer considerations, especially in the rare disease field.

SMA Europe acknowledges and understands that developing new drugs involves considerable commercial risk and significant investment, and that rare diseases have limited financial returns in market terms, as numbers of potential beneficiaries are low. We also recognise the burden that a very costly drug can have on a health care system. Patients need new collaborative schemes to ensure that the ultimate purpose of the whole drug development process and approval – patients receiving treatment – is achieved in a timely and efficient manner. This should involve all parties working together across all stages of the process – including the pricing debate.

SMA Europe considers that it can positively contribute to the complicated issues around pricing and reimbursement by being involved in them.

Currently, insufficient involvement of the community on pricing issues combined with high list prices, has brought undesired delays and limited access to treatment in key European markets. This has brought a loss of support in the community for new drug initiatives. If patient representatives could work more closely with other stakeholders, these negative situations would be avoided and the ultimate goal of giving patients the medicines they need would be ensured.

This statement can also be found on our website.

Our Projects

SMA Europe has dedicated working groups (WGs) to deliver each priority set in its annual working plan. In the past 6 months, we have been busy advancing the following initiatives:


Announcing our new Call for research proposals - SMA Europe will be launching its 10th call for research proposals in 2019. Our research priorities will be: 
  1. SMN-independent mechanisms of disease
  2. SMA as a multi-system disease
  3. Biomarkers
  4. Combination therapies & muscle-targetted therapies
  5. What makes a patient a responder/ non-responder to a specific drug (besides their age and disease status)?
  6. Evidence-based standards of care and patient evaluation
We hope to launch the Call very soon.

International Scientific & Clinical Congress 2020 - We are delighted to announce that we will be hosting a second scientific & clinical congress in February 2020. This time, we will be hosted by AFM-Té
thon in Paris (France).

Follow-up patient survey 

The general objective of this follow-up survey, is to establish an updated advocacy tool based on the patient’s voice to support:
  • The on-going high need for the development of additional trials with current and new therapeutic approaches for all patients
  • The approval of effective and safe therapeutics
  • The access to approved therapies
Our target groups are:
  • Patients living with SMA, including all ages and types
  • Patients living with SMA in SMA Europe member countries (i.e. European populations)
The project is progressing well. The English version of the survey has now been sent to our member countries for translation. We hope to launch it early in the new year.

Standards of care

The revised standards of care which were recently published in Neuromuscular Disorders are being translated into a version for families. The final draft is now awaited. 

Clinical trials readiness project

SMA Europe has initiated a structured collaboration with Cure SMA and the Industry Consortium, through a pilot project which consists of mapping Europe's current capacity to run clinical trials. Many meetings have been had and a survey carried out.

Out of the 32 clinical trial centres (in 17 countries), which answered the survey, this is what we found:
  • More than 1,000 SMA patients receive routine care in these centres.
  • Their registries include more than 1,600 SMA patients. Now have a map of contact data for over 180 CT centres in Europe.
  • 23 centres could conduct new trials for 178 patients.
  • 14 centres could accept a total of 96 extra patients in current trials.
  • 11 new centres, 4 new countries could start clinical trials for 100 patients (with training).
SMA Europe will join as a full Consortium partner in the new year to start on the second phase of the project.

Our Impact

SMA Europe members provide their expertise in many forums:
  • Neuromuscular Translational Summer School, 2nd to 6th July 2018 in Newcastle-upon-Tyne, UK. Ria Broekgaarden Broekgaarden from our Dutch organisation, Spierziekten, Netherlands, discussed what happens to a drug once it has been approved by the EMA and how its marketing happens on a member state level leading to variations across the EU. Ria then discussed the role of patient organisations in research specifically highlighting their role in the development and curation of patient registries.
  • ICNMD in Vienna, 6-10 July 2018,. SMA Europe's vice-President, Nicole Gusset, gave a presentation on the 'Challenges in the management of SMA: the patient and carer perspective".
  • Global Patient Partnership Summit Roche. 4th September in Basel, Switzerland. Nicole Gusset gave a presentation on early patient engagement for SMA. A panel discussion followed, involving Nicole Gusset for SMA Europe as well as Alastair Kent and the Roche leadership team, Niko Andre, Alexander Hardy and William Pao.
  • Novartis Scientific Advisory Board on LMI070 / branaplam, 21st September 2018, London. SMA Europe was represented by Nicole Gusset.
  • Roche Advisory Board “Advancing industry-patient partnership in early-stage development in rare diseases”. 27th September in Basel, Switzerland. Nicole Gusset is a member of this advisory board and she took part in this first meeting.
  • Access after Marketing Authorisation: Sharing Experience from the Patient's Perspective - Joint EFGCP & DIA Better Medicines for Children Conference - 25th & 26th October 2018 in Brussels, Belgium. Our President, Mencia de Lemus, will give the patient perspective for SMA.
  • Biogen Advisory Board on patient involvement in R&D - 12th & 13th November 2018 in Luzern, Switzerland. Nicole Gusset and Vanessa Christie-Brown represented SMA Europe to stress how patients can contribute to R&D and how important it is to involve them early on in the process to avoid negative consequences.
  • SMA Expert Masterclass on Spinal Muscular Atrophy, 19th & 20th November 2018 in Rome, Italy: Our President, Mencia de Lemus, will give a talk on access to treatments for patients with SMA in Europe.

Publications arising out of our funding or contribution: 

SMA Europe "out & about"

Members of SMA Europe have or will participate in the following meetings and conferences:
  • Eva Stumpe, our member from Germany attended the SMArt CARE Steering Committee Meeting in Frankfurt on 7th June 2018. The aim is to establish a registry in German speaking countries with data of SMA patients under going treatment as well as not under going treatment.
  • Denica Velkovska, our representative from Macedonia attended EFNA’s latest training Initiative for Neurology Advocates, which took place as a satellite session to the FENS Forum in Berlin on July 6th and 7th. "Science for Advocates" was the theme explored, the 30+ patient advocates  who attended learned how to better access, understand and communicate basic neuroscience.
  • Eva Stumpe also attended the SMA Symposium in Hohenroda (Germany) between 7th & 10th September 2018. There were as many as 160 participants: from families with SMA kids, adults with SMA, presentations from leading German researchers, a lawyer and a social counsellor (disability rights). The meeting included a Q&A forum with the pharmaceutical industry.

Member News


On Saturday 15th September, the organisation celebrated 60 years of "fights and victories". The event included almost 3,000 membres as well as the Minister for Families &  Handicapped People. It is then that the organisation launched its Téléthon 2018, its 31st annual fundraising event, which will take place on 7th & 8th December on the theme "Vaincre la maladie" (beat disease). Last year, 59.8 millions Euros were dedicated to research and 34 millions to help patients in other ways. Its Godfather this year is Pascal Obispo, a singer songwriter.

CSMA Ukraine

In October, the Ukrainian SMA Foundation “Children with SMA”  launched project ProSMA clinic – the first event for SMA patients in Ukraine. This is an initiative of the Foundation and doctors who understand the importance of advanced knowledge for SMA patients. A multidisciplinary approach is implemented in a one-day meeting of invited SMA patients and doctors experienced in important for SMA areas: neurologist, paediatrician, nutritionist, orthopedist, physiotherapist,  psychologist.
The implementation of a e-cloud service for getting in touch with patients in combination with a possibility of remote consultations create a model that should be followed by the National Healthcare System. The Foundation expects the regularity of such events and hopes to draw attention to SMA patients at the national level.

Please go to their website for more information.

SMA Family Foundation Russia

Our Russian member organisation, SMA Family Foundation Russia, held its third SMA conference, this time focusing on Standarts of Care and multidisciplinary approach, in Moscow on 14th & 15th September 2018.
The SMA Conferense in Russia gathered more then 350 attendees including 181 healthcare specialists and 150 family's members affected by SMA, and industry representatieves. 
The main theme of the conference was the updated European standards of care for people with SMA, which were originally developed by an international team of specialists 10 years ago.  Revised standards published beggining of 2018 were prepared taking into account experiences accumulated over that time on supporting patients with SMA, the development of new equipment and advances in the field of pharmacology. And implication SOC in the real world national practice were discussed.
Other topics included: Novel therapies for the treatment of SMA (current clinical trials and approved drugs); general principles for caring for patients with SMA, organisation of work with patients' families and routing; early interventions (physical therapy and its role in assisting patients with SMA. Selection of technical means of rehabilitation and work with individual physical features as a way to prevent secondary complications); Respiratory support in patients with SMA^ prevention of complications, nutritional support.
They were delighted to welcome leading experts in the care for patients with neuromuscular diseases from Russia, Great Britain and Spain, who highlighted the most important issues in the care for patients with SMA.
Professor Eduardo Tizzano, a leading SMA clinician and geneticist from Barcelona in Spain and Marion Main, an expert physiotherapist from the UK. Both gave wonderful lectures and also met with families, conducted individual consultations and listened carefully to the experience of Russian colleagues.


SMA Schweiz 

Our Swiss organisation held its second SMA Schweiz day this August, in Nottwil. With 120 registrations, this event was a complete success.
SMA Schweiz engaged Swiss key opinion leaders to update their community on SMA therapy developments and to provide information on the status of clinical trials and approved drugs in Switzerland but also to demonstrate how the patients’ voice can influence these development actively. In a vivid multi-stakeholder panel discussion, the expectations and challenges from the new therapeutic landscape in SMA were debated.
This event also provided the community with an opportunity to share experiences and to network; and offered a child care with the support of a dancing school.
Although SMA Schweiz is happy with all that has been achieved, they will continue to stand up for their rights, be it in developing therapeutic options or accessing existing therapies.

Stop SMA Macedonia 

Our member organisation from the republic of Macedonia, STOP SMA, held its first meeting of specialists and families of patients with SMA on 23rd August in Skopje. The theme was “SMA care standards - a need for a multidisciplinary approach”. The conference was opened by STOP-SMA President Denica Velkovska and the welcome speech given by the Minister of Health, Professor Venko Filiche.
The agenda included various topics, from neurology (SMA diagnostics, access and therapies), pulmonology (standards for respiratory care of SMA), intensive care (acute care and care protocols), orthopaedics (surgical interventions, orthotics and prosthetics), physical medicine and rehabilitation to an interactive physical therapy session. Time was also factored in for questions and discussions.


Copyright © 2018, SMA Europe.
All rights reserved.

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