Scientific Projects from the SMArtCARE Network
Scientific questions/research projects
The academic network around SMArtCARE aims to evaluate the long-term course of patients under therapy from a scientific point of view in order to gain additional knowledge about SMA, and the safety and the benefit of the drugs compared to other therapies.
Therefore, over the entire duration of the SMArtCARE data collection, the results obtained will be statistically evaluated and published in scientific journals. In these publications, no personally identifiable data (such as names or characteristics) will be published from which conclusions can be drawn about you or your child.
The following projects are currently underway:
1) Follow-up of patients with gene replacement therapy
Prof. Dr. Angela Kaindl, Dr. Claudia Weiß, Dr. Andreas Ziegler
2) Differences in disease age and severity between sibling pairs with comparable genetic backgrounds
Dr. Benedikt Becker, Isabell Cordts, Prof. Dr. Marcus Deschauer
3) Analysis of data from patients with 4 SMN2 copies with focus on clinical manifestations and clinical course
PD Dr. Katharina Vill, Prof. Dr. Wolfgang Müller-Felber, PD Dr. Astrid Pechmann, Prof. Dr. Janbernd Kirschner
4) Year-to-year comparison of patients from the newborn screening pilot project with patients from the SMArtCARE registry
Dr. Oliver Schwartz, PD Dr. Astrid Pechmann, Prof. Dr. Janbernd Kirschner, PD Dr. Katharina Vill, Prof. Dr. Wolfgang Müller-Felber
5) Evaluation of functional outcome in patients with 5q-associated spinal muscular atrophy after switching therapy from nusinersen to risdiplam compared to nusinersen continuous therapy
Dr. Deike Weiss, Dr. Jessika, Johannsen, PD Dr. Jonas Denecke
6) Comparative analysis of data from patients on therapy with nusinersen or onasemnogen-abeparvovec and the influence of a change in therapy
PD Dr. Astrid Pechmann, Prof. Dr. Janbernd Kirschner in cooperation with the Institute for Medical Biometry and Statistics (IMBI) of the University Medical Centre Freiburg
7) Multicentre long-term follow-up of patients > 12 years with 5q-SMA treated with risdiplam
Prof. Dr. Maggie Walter
8) Parenthood, family planning, and pregnancy experience and outcomes in patients with Spinal Muscular Atrophy
Prof. Dr. Maggie Walter, Simone Thiele
9) Current care landscape SMA without effectiveness data
PD Dr. Astrid Pechmann, Prof. Dr. Jan Kirschner