Abstract: Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry of ambulant patients under nusinersen treatment with a follow-up period of up to 38 months. Methods: SMArtCARE is a disease-specific registry in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. Our analysis included all patients under treatment with nusinersen able to walk independently before start of treatment with focus on changes in motor function. Results: Data from 231 ambulant patients were included in the analysis. During the observation period, 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement of≥30 m in the 6-Minute-Walk-Test. In contrast, only five adult walkers (7.7%) showed a decline in walking distance≥30 m, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen. HFMSE and RULM scores improved in pediatric and remained stable in adult patients. Conclusion: Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. We not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance. Trial registration DRKS00012699

Abstract: Background: Mobile health apps have great potential to support the self-management of chronic conditions such as allergic diseases, which constitute significant challenges in health care. However, the health app market is confusing for users, as it is vast, dynamic, and lacks scientific evidence regarding the effectiveness of the apps on offer. To our knowledge, no health app for pollen-related allergic rhinitis has been evaluated. Objective: The aim of our study was to evaluate the Husteblume mobile phone health app, developed in Germany to facilitate the self-management of pollen-related allergic rhinitis. Methods: We evaluated usability and changes in quality of life, health literacy, and self-efficacy for managing one's chronic disease. We conducted 2 online surveys of registered users of the app, 1 before and 1 after the 2017 pollen season, allowing for the analysis of both cross-sectional and longitudinal data in a field setting. Results: The sample comprised 661 app users at the first measurement point and 143 users at follow-up. The subgroup of study participants at follow-up rated the usability of the app as good or very good. There were no significant changes in patient-reported outcomes such as quality of life, health literacy, and self-efficacy between the 2 measurement points (P>.05). However, those reached at follow-up perceived subjective improvements due to the app: 55.9% (80/143) reported being subjectively better informed about their allergy, 27.3% (39/143) noted improved quality of life, 33.6% (48/143) reported subjectively better coping with their allergy, and 28.0% (40/143) felt better prepared for the consultation with their physician. Finally, 90.9% (130/143) users did not identify any adverse effects of the app. Conclusions: Despite some methodological caveats, the results of the evaluation of the Husteblume app are encouraging for the subgroup using the app in the long term. However, further studies evaluating the effectiveness of the app are needed. Trial Registration: German Clinical Trials Register DRKS00011897; https://tinyurl.com/yxxrg9av

Abstract: Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. Methods SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Results Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Conclusion Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity