SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
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. I...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-019-0998-4 |
| _version_ | 1818985697106722816 |
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| author | 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 Janbernd Kirschner |
| author_facet | 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 Janbernd Kirschner |
| author_sort | Astrid Pechmann |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T18:39:01Z |
| format | Article |
| id | doaj.art-a83b67a28e984288b50f76b05e169552 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-20T18:39:01Z |
| publishDate | 2019-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-a83b67a28e984288b50f76b05e1695522022-12-21T19:29:52ZengBMCOrphanet Journal of Rare Diseases1750-11722019-01-011411610.1186/s13023-019-0998-4SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann0Kirsten König1Günther Bernert2Kristina Schachtrup3Ulrike Schara4David Schorling5Inge Schwersenz6Sabine Stein7Adrian Tassoni8Sibylle Vogt9Maggie C. Walter10Hanns Lochmüller11Janbernd Kirschner12Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of FreiburgClinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine, University of FreiburgGottfried von Preyer Children HospitalClinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine, University of FreiburgDepartment of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Children’s Hospital 1, University of Duisburg-EssenDepartment of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of FreiburgDeutsche Gesellschaft für Muskelkranke e. V.Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of FreiburgClinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine, University of FreiburgDepartment of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of FreiburgDepartment of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of MunichDepartment of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of FreiburgDepartment of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of FreiburgAbstract 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.http://link.springer.com/article/10.1186/s13023-019-0998-4Spinal muscular atrophyReal-life outcome dataOrphan drugRare diseaseRegistry |
| spellingShingle | 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 Janbernd Kirschner SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy Orphanet Journal of Rare Diseases Spinal muscular atrophy Real-life outcome data Orphan drug Rare disease Registry |
| title | SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy |
| title_full | SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy |
| title_fullStr | SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy |
| title_full_unstemmed | SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy |
| title_short | SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy |
| title_sort | smartcare a platform to collect real life outcome data of patients with spinal muscular atrophy |
| topic | Spinal muscular atrophy Real-life outcome data Orphan drug Rare disease Registry |
| url | http://link.springer.com/article/10.1186/s13023-019-0998-4 |
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