French Muscular Dystrophy Association

Neuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies. From diagnosis to treatment and follow-up, the development of technological solutions can improve the detection of several critical aspects related to the diseases, addressing both the met and unmet needs of clinicians and patients. Among several aspects of the digital transformation of health and care, this congress expands what has been learned from previous congresses editions on applicability and usefulness of technological solutions in NMDs. In particular the focus on new solutions for remote monitoring provide valuable insights to increase disease-specific knowledge and trigger prompt decision-making. In doing that, several perspectives from different areas of expertise were shared and discussed, pointing out strengths and weaknesses on the current state of the art on topic, suggesting new research lines to advance technology in this specific clinical field.

ObjectiveWhile patient participation in individual health technology assessments (HTAs) has been frequently described in the literature, patient and citizen participation at the organizational level is less described and may be less understood and practiced in HTA bodies. We aimed to better understand its use by describing current practice.MethodTo elicit descriptive case studies and insights we conducted semi-structured interviews and open-ended questionnaires with HTA body staff and patients and citizens participating at the organizational level in Belgium, France, Quebec, Scotland, and Wales.ResultsWe identified examples of organizational participation in managerial aspects: governance, defining patient involvement processes, evaluation processes and methods, and capacity building. Mechanisms included consultation, collaboration, and membership of standing (permanent) groups. These were sometimes combined. Participants were usually from umbrella patient organizations and patient associations, as well as individual patients and citizens.DiscussionAlthough the concept, participation at the organizational level, is not well-established, we observed a trend toward growth in each jurisdiction. Some goals were shared for this participation, but HTA bodies focused more on instrumental goals, especially improving participation in HTAs, while patients and citizens were more likely to offer democratic and developmental goals beyond improving participation processes.ConclusionOur findings provide rationales for organizational-level participation from the perspectives of HTA bodies and patients. The case studies provide insights into how to involve participants and who may be seen as legitimate participants. These findings may be useful to HTA bodies, the patient sector, and communities when devising an organizational-level participation framework.

This cross-sectional study evaluated health-related quality of life (HRQoL) in patients with slowly progressive neuromuscular disorders dependent on mechanical ventilation (MV; ≥16 hours/day). 119 participants, with 9 years (25th–75th percentiles: 4–15 years) of MV dependence, were included. MV was applied via a tracheostomy in 80 participants (67.2%) and non-invasive interfaces in 39 participants (32.8%), including 28 participants (71.8%) with daytime mouthpiece ventilation. HRQoL was rated good or excellent by 81 participants (68.1%), independently from age, diagnosis or respiratory autonomy. On multivariate analysis, time since MV initiation, independence from family member(s), residence in a rural area, ability to go outdoors with MV and tracheostomy were associated with better HRQoL.

Abstract Background Mobile health applications (apps) are increasing in interest for enhancing patient self-management in rheumatology. However, few have been developed with the involvement of patients and health professionals and actually used by patients. Objective To develop and implement a mobile app for safety, self-assessment and medication adherence for patients with inflammatory arthritis treated with disease modifying anti-rheumatic drugs (DMARDs) and assess its real-life use. Methods A mixed qualitative-quantitative study including 42 and 344 patients, respectively, identified patients’ treatment practices and their use of health apps in general and their needs in terms of content and potential use. A multidisciplinary team including 7 rheumatologists, 3 patient association representatives and 4 members of a digital company developed the first version of the app with face-to-face meetings and patient feedback during the process. After the launch of the app, users’ feedback assessment included 7 patients and 3 rheumatologists. The number of app installations, current users, users’ requests and functionalities used were collected. Results Preliminary studies indicated numerous safety issues and needs for counselling, leading to the 6 functionalities of the app HIBOOT (OWL in English): a safety checklist before treatment administration, aid in daily life situations related to self-management and safety, treatment reminders, global well-being self-assessment, periodic counselling messages, and a diary to note comments and appointments. The app is free, with no personal data collection. The presentation is a friendly companion that interacts with the user. The content was based on the French recommendations for DMARD management, drug leaflets and public national health websites. HIBOOT was installed 20,500 times from 2017 to 2020, with 4300 regular current users and still increasing usage curves. The checklist, diary and queries on daily life situations were the most used functionalities. Overall, 18,000 requests were identified for information on safety or other patient matters over a 8-month period in 2020. Scores were 4.4/5 stars at Android and iOS stores. Conclusion HIBOOT is a free app for patients with inflammatory arthritis that was developed with a preliminary qualitative–quantitative study including patients during the process and has scientifically validated content. The number of current users is substantial. Future evaluation of the HIBOOT benefit is needed.

Compte tenu des coûts importants du développement clinique de nouvelles molécules et de la lenteur de la découverte de nouveaux traitements, repositionner un médicament « ancien » dans une nouvelle indication s’avère parfois une solution intéressante. Elle implique de réutiliser un composé dont la sécurité et la tolérance ont déjà été démontrées, avec potentiellement une réduction des délais et des budgets de développement, mais aussi une augmentation des chances de succès. Le tamoxifène, utilisé en oncologie depuis près de 40 ans, est ainsi considéré comme un candidat médicament prometteur pour la dystrophie musculaire de Duchenne mais aussi pour la myopathie myotubulaire liée à l’X. Point d’étape…

Les technologies numériques ont commencé d’étendre le champ des possibles pour les patients atteints d’une maladie neuromusculaire et leurs soignants. Du diagnostic à la prise en charge au long cours, la e-santé porte en elle le potentiel d’un puissant moteur d’amélioration du parcours de soins, mais aussi des pratiques et de l’organisation même du système de santé.