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

Our new collaborative publication on the development of a platform to collect real-life longitudinal data on patients with spinal muscular atrophy (SMA) is now available at the Orphanet Journal of Rare Diseases website (open access). This important European study led by Prof. Janbernd Kirschner demonstrates how long-term, real-life outcomes of patients under novel therapy should be captured, allowing for a better understanding of the natural history and influence of treatments. A disease-specific registry allows outcome and safety data capture for multiple research and other purposes in line with consensus by the wider SMA community.

Read the full paper by Pechmann et al on the OJRD website here.

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 a 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.

Image of publications and text reading "new paper!"

Read next...

Sally describes lab research to FSHD visitors

Lochmüller Lab hosts information session on clinical research for FSHD

On Saturday June 11th we were delighted to welcome individuals and families living with facioscapulohumeral muscular dystrophy (FSHD) and members of the FSHD Society to...
JND-cover

May 2022 Issue of the Journal of Neuromuscular Diseases Available Online

The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its third issue of 2022! In Volume 9, Issue...
CHEO

CHEO Registers Tenth Patient in AMO Reach CDM Clinical Trial

The Lochmüller Lab is excited to share that as of March 14, 2022 our site at the Children’s Hospital of Eastern Ontario (CHEO) has registered...
CNDR_logo-2x3

Canadian Neuromuscular Disease Registry Launches New Congenital Myasthenic Syndrome Registry

We’re delighted to announce that a new registry for patients with congenital myasthenic syndrome (CMS) has just been launched within the Canadian Neuromuscular Disease Registry (CNDR).  This...
Lochmuller Lab at the Rideau Canal, group picture.

Lochmüller Lab Visits World’s Longest Skating Rink

This February the Lochmüller Lab took a break from the research benches at the CHEO RI to visit the Rideau Canal Skateway. A UNESCO world...
JND_V9-i1

January 2022 Issue of the Journal of Neuromuscular Diseases Available Online

The Lochmüller Lab is pleased to share that the the Journal of Neuromuscular Diseases has published its first issue of 2022! In Volume 9, Issue...