Clinical evaluation and monitoring of patients with spinal muscular atrophy

The natural history of spinal muscular atrophy (SMA) changed over the last decade due to changes in care and the development of targeted treatments for SMA.

Targeted treatments for SMA have been developed in preclinical and clinical studies. Since 2017 nusinersen, risdiplam and gene therapy (onasemnogene abeparvovec) have been approved for the treatment of patients with SMA. The approval of these orphan drugs is often based on clinical trial data from a small subgroup of paediatric SMA patients. Thus, additional systematic data collection is essential to evaluate safety and effectiveness of these treatments over longer observation periods and in a broader spectrum of patients.

In Germany, there is already an existing registry for patients with SMA. Please, indicate this opportunity to your patients (

SMArtCARE is a joint initiative of neurologists, paediatricians, and patients’ organisations. The aim of SMArtCARE is to collect longitudinal 'real-world data' on all available SMA patients independent of their actual treatment regime as disease-specific SMA registry. For this purpose, an online platform has been developed to collect data on SMA patients from their health-care providers. Data are collected during routine patient visits and items for data collection are aligned with the international consensus for SMA registries.

Different pharmaceutical companies provide financial support for this registry. However, the contractual basis has been regulated in such a way that data collection and interpretation are independent of these companies.

We have developed recommendations for the clinical evaluation of patients with SMA and provide corresponding documentation sheets in the download area. Compensation is provided for the documentation efforts of the participating centres and is contractually guaranteed.
If you are interested in participating in the SMArtCARE data collection, please contact us: The data will be collected at your centre. If the corresponding ethical approval and consent of the patients are available, they can be entered into the central database.

SMArtCARE is a network for clinical research in spinal muscular atrophy. If you have your own research ideas or would like to validate new evaluation tools, please contact us. You may be able to use the infrastructure of SMArtCARE for your project, thus avoiding unnecessary extra work.


SMArtCARE Steering Committee

Prof. Dr. Günther Bernert
Susanne Goldbach (patient advocacy)
Prof. Dr. Tim Hagenacker
Prof. Dr. Jan Kirschner
Prof. Dr. Hanns Lochmüller
Prof. Dr. Wolfgang Müller-Felber
Priv.-Doz. Dr. Astrid Pechmann
Prof. Dr. Ulrike Schara
Dr. Kristina Probst-Schendzielorz (patient advocacy)
Prof. Dr. Maggie Walter

Workshops for the physiotherapeutic assessments

Workshops with detailed training on the motor function tests are offered at regular intervals. The events are carried out with the support of Biogen. Since 2021 the workshops are supported by the companies Biogen, Novartis Gene Therapies and Roche. If you have any questions, please contact us:

Please note: as of 2022 the workshops for the physiotherapeutic assessments are only offered to SMArtCARE participants. We also ask you to refrain from enquiries and registrations by e-mail. As soon as the registration is active you will receive the respective link by e-mail.

Dates 2022Key TopicLocation
15. February
16:00 - 19:00 CET
CHOP INTEND (newcomer course);
neonatal screening
14. March
16:00 - 19:00 CET
HFMSE (newcomer course);
genetics / biomarkers
17. March
16:00 - 19:15 CET
RULM (newcomer course);
RULM with adult SMA patients (in cooperation with UK Heidelberg);
SMA & pregnancy
Dates 2021Key TopicLocation
03. MayStandardised evaluation and therapy effects in adultsWebinar/Online
06. MayCHOP-INTEND and update on gene therapyWebinar/Online
07. OctoberCHOP-INTEND and respiratory management in SMA type 1Webinar/Online
11. OctoberHFMSE and RULM and oral therapy options in SMAWebinar/Online
Dates 2020Key TopicLocation
12./13. March (workshop cancelled)CHOP INTEND, HFMSE
(newcomer course)
07./08. May (workshop cancelled)HFMSE, RULM, 6MWT
(advanced training)
19./20. November (workshop cancelled)All assessments
(newcomer course)
12. November
16:00 - 18:00 CET
Various Topics - will be announced soon,
overview of recommendations for the evaluation of patients in SMA
16. November
16:00 - 18:30 CET
CHOP and HFMSE advanced training,
overview of recommendations for the evaluation of patients in SMA
23. November
16:00 - 18:30 CET
RULM and 6 MWT advanced training,
overview of recommendations for the evaluation of patients in SMA
Dates 2019Location
14./15. MarchCHOP INTEND
(newcomer course)
23./24. MayHFMSE, RULM, 6MWT
(newcomer course)
(advanced training)
28./29. NovemberAll assessments
(advanced training)
Dates 2018 Location
22./23. February Berlin
19./20. April Frankfurt
7./8. June Frankfurt
15./16. November Berlin
Dates 2017 Location
March Frankfurt
May Frankfurt
October Frankfurt
November Frankfurt


Recommendations for the evaluation of patients with SMA
CRFs, Manuals and Materials (please ask for login and password:


Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1
     (Pechmann A et al., Journal of neuromuscular diseases, 2020)
Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie
     (Kirschner J et al., Monatsschrift Kinderheilkunde, 2020)
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study
     (Hagenacker T et al., The Lancet. Neurology, 2020)
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
     (Pechmann A et al., Orphanet Journal of Rare Diseases, 2019)
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
     (Pechmann A et al., Journal of Neuromuscular Diseases, 2018)
Therapie der 5q-assoziierten Spinalen Muskelatrophie mit Nusinersen – erste Erfahrungen
     (Giese K et al., Neuropädiatrie in Klinik und Praxis, 2018, Max Schmidt-Römhild GmbH & Co. KG)
International consensus on the therapie of SMA (Neuromuscular Disorders 2018): Part 1 und Part 2

Important Links

SMA Patient Registry
Initiative SMA
Deutsche Muskelstiftung
Deutsche Gesellschaft für Muskelkranke

Map of the participating centres


Principal Investigator in Freiburg: PD Dr. Astrid Pechmann

Department of Neuropaediatrics and Muscle Disorders
Medical Center- University of Freiburg

If you have any questions, please e-mail us:
For questions on physiotherapie:


For technical support please contact us by e-mail:
or by phone: +49-761-270-43211

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