By: Fabiola Maria Bertinotti | Vice-president, FSHD EUROPE and CAMN (Coordination of Neuromuscular Associations, Italy) representative

Many representative people in the world of Neuromuscular diseases met in Milan upon invitation by ENMC (European NeuroMuscular Centre) in January 19-20 and I was more than honored to sit amongst this group of talented professionals in my capacity of Head of Family’s Interests for FSHD EUROPE (a federation of local patients associations in the field of Facioscapulohumeral Muscular Dystrophy and other MD’s) and as a representative for CAMN (Coordination Of Neuromuscular Associations, Italy). What was my general feeling? Well, I have to say that, like anybody else attending the workshop, I also felt particularly excited as we were all very conscious that this one would have been a special congress for at least two good reasons.

First of all, this 235th ENMC workshop would have marked the 25th anniversary for ENMC, an international organization whose peculiarity has always been that of setting up meetings on the most valuable trends in the neuromuscular space by pulling together the most significant personalities of a given field in order to raise the bar on a variety of compelling topics. Strictly tied to the importance of this anniversary was the theme of the congress: “The position of the neuromuscular patient in Shared Decision Making”.

Although Shared Decision Making (SDM) apply to all key stakeholders gravitating around the patient/doctor equation, it was clear from the beginning that the main purpose of this workshop was that of defining the role of patients in the next 10 years by attributing to them a decisional role. This big step forward in the worlds of medicine and science will have at least two key substantial consequences: a) the patient will be seen as an individual enabled to participate in medical decisions impacting his/her health; b) the patient (who wishes to become knowledgeable) will be acting as an expert of his/her own disease and also will be taking an increasingly decisive role in the success of scientific trials, other patients’ awareness and formation initiatives, relations with the pharmaceutical industry and public health institutions.

The European Community has been in the frontline supporting this new patient role very much in the recent 2-3 years, mainly through the creation of high end organizations such as EURORDIS (a nongovernmental patient-driven alliance of patient organizations representing 779 rare disease patient organizations in 69 countries) and EUPATI (The European Patients’ Academy, a pan- European project implemented as a public-private partnership by a collaborative multi-stakeholder consortium from the pharmaceutical industry, academia, not-for-profit, and patient organizations).

In the past, the role of patients in the design of clinical trials was absent, which may be one of the factors why these trials did not meet the patient’s and regulatory requirements. This is why I was extremely pleased with ENMC picking up this very crucial subject and showing to wish to play in the frontline by addressing the issue of patient participation in a broader manner, covering multiple research aspects and inviting patients representing several areas of disease. In fact, the ENMC itself has a patient participation program in place since 4 years; always minimally 2-3 patients and/or patient representatives are invited for each workshop having an active role at these meetings and influencing the priority setting of the research agenda.

Many topics related to the patient role in SDM have been thoroughly debated over this ENMC congress and two different sessions have seen the passionate participation of all invitees around 6 main themes: research that has a major impact on day to day patient life, psychosocial support at screenings and diagnosis, transition from child to adulthood, disease registries and biobanks, clinical trial design and regulatory aspects. The output of these intense two days made of lectures and discussion groups has been collected by three editors who will write a draft article that will be revised later on by participants with the final goal of becoming a publication in key scientific magazines in six months’ time. This said, do you want to know what my takeout as the mother of a patient living with FSHD are?

  • Shared Decision Making is a process and, as such, it requires a change of approach and culture shift from all stakeholders, as well as more financial support, societal integration and contemporary services.
  • Educating physicians, healthcare practitioners, adult and young patients, caregivers etc. on the benefits of SMD is a necessary seeding work.
  • Structural changes are needed in order to include Patient Organizations (PO’s) and Patient Representatives (PR’s) in advisory boards, ethics committees and in every stage of clinical trials.
  • Patients, who feel to do it, should become ambassadors and inspire other patients as well to become constructive partners for all other stakeholders involved.
  • Honesty and transparency are crucial, like everywhere else.
  • Continuous financial support from European Union and local public administrations is essential in order to sustain SDM and make it happen.
  • Fluid and respectful communication amongst all stakeholders is a must and patients should sit at the top level of the “participation ladder”.
  • Independence is another key factor in order to ensure a successful balance of all parties involved.
  • Circular flow of information is fundamental in clinical trial design, protocol, recruiting, patient-reported outcomes and outcomes measures, because SDM is a process that is going to be successful only if all stakeholders work together.
  • SDM can definitely play a significant role also in registries and biobanks
  • In neuromuscular diseases local registries have to host harmonized data and need to be structured in a way as to permit international linkage to other depository registries, and this for the benefit of patients in the first place.
  • Patients need to be informed so that they can take part to the process, hence formation is key.
  • Some patients feel willing and ready to become experts, some not. Everyone has to be profoundly respected about her/his point of view
  • The human factor is key when focusing on the patient as a key player in a scientific/clinical paradigm, in fact Coaching and Awareness are the first steps to trigger SDM.
  • Advocacy should be offered through videos, info graphics etc. to patients to put them in a position to make decisions.
  • Patients should be constantly informed about the evolution of the registries and also receive feedback about the provision of their samples and/or data. This will encourage their involvement and make them feel part of the research and therefore their own future!
  • Key clinicians in the space of FSHD (Facioscapulohumeral Muscular Dystrophy) like Dr. Georg Padberg (ENMC’s Research Director) and Baziel Van Engelen were attending, hence FSHD community is in a good position to embrace a more contemporary approach, at least from the side of two key clinicians!
  • Last but not least, patients’ reps, clinicians and pharmaceutical reps were all present. European countries were largely represented. Organization of the meeting was definitely very good across the board. Looking forward to seeing all of this content orderly laid out into a valuable article which – I hope – will be leading the way to what is called “co-creation” and “open science”.