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Observational Study
. 2023 Feb 21;18(1):32.
doi: 10.1186/s13023-023-02639-z.

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Berenike Leibrock  1 , Erik Landfeldt  2 , Justine Hussong  3 , Tabea Huelle  1 , Hannah Mattheus  3 , Simone Thiele  4 , Maggie C Walter  4 , Michael Zemlin  5 , Eva Moehler  3 , Ullrich Dillman  6 , Sophia Abner  7 , Marina Flotats-Bastardas  8
Affiliations
Observational Study

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany

Berenike Leibrock et al. Orphanet J Rare Dis. .

Abstract

Background: Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany. We conducted a cross-sectional, observational study of German patients with genetically confirmed SMA identified and recruited via a nationwide SMA patient registry ( www.sma-register.de ) within the TREAT-NMD network. Study data was recorded directly from patient-caregiver pairs through a study questionnaire administered online via a dedicated study website.

Results: The final study cohort consisted of 107 patients with SMA. Of these, 24 were children and 83 adults. In total, about 78% of all participants were taking medication for SMA (predominantly nusinersen and risdiplam). All children with SMA1 were able to sit and 27% of children with SMA2 were able to stand or walk. Impaired upper limb function, scoliosis and bulbar dysfunction were observed more frequently in patients with reduced lower limb performance. Physiotherapy, occupational therapy, and speech therapy, as well as the use of cough assists were less common than indicated by care guidelines. Family planning and educational and employment status appear to be related to motor skill impairment.

Conclusions: We show that the natural history of disease has changed in Germany following improvements in SMA care and the introduction of novel therapies. Yet, a non-trivial proportion of patients remain untreated. We also identified considerable limitations in rehabilitation and respiratory care, as well as low labour-market participation among adults with SMA, calling for action to improve the current situation.

Keywords: (8/10): spinal muscular atrophy; Bulbar function; Medical care; Motor function; Non-invasive ventilation; Nusinersen; Rehabilitation; Risdiplam.

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Conflict of interest statement

Dr. Marina Flotats-Bastardas has received consultant fees from Roche and Biogen. Dr. Landfeldt and Ms. Abner are employees of IQVIA, a contract research organization. Dr. Maggie C. Walter has served on advisory boards for Avexis, Biogen, Novartis, Pfizer, Roche, Santhera, Sarepta, Pharnext, PTC Therapeutics, Ultragenyx, Wave Sciences, received funding for Travel or Speaker Honoraria from Avexis, Biogen, PTC Therapeutics, Ultragenyx, Santhera, Sarepta, and worked as an ad-hoc consultant for AskBio, Audentes Therapeutics, Avexis, Biogen Pharma GmbH, Fulcrum Therapeutics, GLG Consult, Guidepoint Global, Gruenenthal Pharma, Novartis, Pharnext, PTC Therapeutics, Roche. Simone Thiele has received financial support for advisory services from PTC. The other authors declare that there is no conflict of interest.

References

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