SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy | Orphanet Journal of Rare Diseases | Full Text

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

• Astrid Pechmann,
• Kirsten König,
• Günther Bernert,
• Kristina Schachtrup,
• Ulrike Schara,
• David Schorling,
• Inge Schwersenz,
• Sabine Stein,
• Adrian Tassoni,
• Sibylle Vogt,
• Maggie C. Walter,
• Hanns Lochmüller and
• Janbernd KirschnerEmail author

Orphanet Journal of Rare Diseases201914:18

https://doi.org/10.1186/s13023-019-0998-4

©  The Author(s). 2019

• Received: 20 November 2018
• Accepted: 8 January 2019
• Published: 21 January 2019

Abstract

Background

Survival and quality of life for patients affected by spinal muscular atrophy (SMA) are thought to have improved over the last decade due to changes in care. In addition, targeted treatments for SMA have been developed based on a better understanding of the molecular pathology. In 2016 and 2017, nusinersen was the first drug to be approved for treatment of all types of SMA in the United States and in Europe based on well-controlled clinical trials in a small subgroup of pediatric SMA 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.

Methods

Within SMArtCARE, we conduct a prospective, multicenter non-randomized registration and outcome study. 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 Germany, Austria and Switzerland. All data are collected during routine patient visits. Items for data collection are aligned with the international consensus for SMA registries. Data analysis is carried out 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 drug treatment. This is crucial to improve the care of SMA patients. Further, we will establish a network for neuromuscular centers to share experience with SMA patients and to promote research projects on SMA.

Trial registration

German Clinical Trials Register (“Deutsches Register klinischer Studien”) DRKS00012699. Registered 09 August 2018. https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_ID=DRKS00012699.

Keywords

• Spinal muscular atrophy
• Real-life outcome data
• Orphan drug
• Rare disease
• Registry