Neuropediatrics 2018; 49(S 02): S1-S69
DOI: 10.1055/s-0038-1676017
Posters
Therapy Strategies and Free Topics
Georg Thieme Verlag KG Stuttgart · New York

P 898. SMArtCARE: Longitudinal Data Collection of Patients with Spinal Muscular Atrophy in German-Speaking Countries

Astrid Pechmann
1  Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany
,
Ulrike Schara
2  Department of Neuropediatrics, Children’s Hospital, University of Duisburg-Essen, Essen, Germany
,
Maggie C. Walter
3  Department of Neurology, Friedrich-Baur-Institute, Munich, Germany
,
Inge Schwersenz
4  Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany
,
Hanns Lochmüller
1  Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany
,
Günther Bernert
5  G. v. Preyer´sches Kinderspital, Wien, Austria
,
Janbernd Kirschner
1  Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
30 October 2018 (online)

 

Background: Based on a better understanding of the molecular genetics of spinal muscular atrophy (SMA), targeted treatments for SMA have been developed in preclinical and clinical studies. Nusinersen is the first drug to be approved in the United States and in Europe since 2016 and 2017 for the treatment of SMA. Furthermore, the natural history of SMA changed over the last decade due to changes in care. The approval of nusinersen for all types of SMA is based on well-controlled clinical trial data of a small subgroup of pediatric SMA patients. Postmarket surveillance and data capture are crucial to evaluate outcomes and the effect of treatment after prolonged treatment periods and in a broader spectrum of patients. Systems are required to monitor treated and untreated SMA patients in a real-life environment to optimize treatment and care, and to provide outcome data to regulators, payers, and the SMA community.

Aim: SMARTCARE collects longitudinal data on all available SMA patients independent of their actual treatment regime as disease-specific SMA registry. For this purpose, we provide an online platform for SMA patients seen by health care providers in German-speaking countries.

Methods and Results: We conduct a prospective, multicenter nonrandomized registration and outcome study in German-speaking countries. Data are collected during routine patient visits. The timing and frequency of follow-up visits and assessments depend on the actual treatment regime. Items for data collection are aligned with the international consensus for SMA registries. As primary outcome, we defined changes in motor function using standardized physiotherapeutic evaluation such as the CHOP INTEND, HFMSE, RULM, and 6-minute walk test. Further, we collect data on pulmonary function, nutrition, orthopaedic symptoms, adverse events, and patient-related outcomes. The data collection is performed independent of commercial partners.

Conclusion: A prospective monitoring of all SMA patients will lead to a better understanding of the natural history of SMA and the influence of different drug treatments. This is crucial to improve care of SMA patients. Furthermore, we will establish a network for neuromuscular centers to share experience with SMA patients and to promote research projects on SMA.