Skip to main content
SpringerLink
Log in

Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany

  • Published:
Quality of Life Research Aims and scope Submit manuscript

Abstract

Purpose

Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease characterized by progressive muscular atrophy and weakness resulting in substantial disability and short life expectancy. The objective of this cross-sectional study was to assess health-related quality of life (HRQoL) of adults with SMA in Germany in the era of disease-modifying therapy.

Methods

Adults with SMA were recruited via the German national TREAT-NMD SMA patient registry. HRQoL was measured using the EQ-5D-5L, the Health Utilities Index Mark III (HUI), and the Short Form (36) Health Survey (SF-36). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III).

Results

A total of 82 adults with SMA (mean age: 42 years, 51% female) self-completed the study questionnaire. The mean EQ-5D-5L utility was estimated at 0.5135 (range across subgroups: 0.31–0.99), mean EQ-VAS at 69.71 (64.67–90.00), mean HUI-derived utility at 0.3171 ( – 0.02–0.96), mean SF-6D utility at 0.6308 (0.58–0.65), and mean SF-36 Physical Component Summary and Mental Health Component Summary scores at 33.78 (9.92–53.10) and 53.49 (21.02–72.25), respectively.

Conclusions

We show that adults with SMA experience considerable impairment across a wide range of health dimensions, including mobility, dexterity, pain, and emotional well-being. However, our results exhibit non-trivial variability across clinical subgroups and HRQoL measures. These data contribute to our understanding of the subjective impact of living with a severely debilitating neuromuscular disease, such as SMA.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

Data availability

The data supporting the findings of this study are not publicly available due to ethical restrictions.

References

  1. Lunn, M. R., & Wang, C. H. (2008). Spinal muscular atrophy. Lancet, 371(9630), 2120–2133.

    Article  PubMed  Google Scholar 

  2. Vill, K., Schwartz, O., Blaschek, A., et al. (2021). Newborn screening for spinal muscular atrophy in Germany: Clinical results after 2 years. Orphanet Journal of Rare Diseases, 16(1), 153.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., et al. (2017). Nusinersen versus sham control in infantile-onset spinal muscular atrophy. New England Journal of Medicine, 377(18), 1723–1732.

    Article  CAS  PubMed  Google Scholar 

  4. Mendell, J. R., Al-Zaidy, S., Shell, R., Arnold, W. D., Rodino-Klapac, L. R., Prior, T. W., et al. (2017). Single-dose gene-replacement therapy for spinal muscular atrophy. New England Journal of Medicine, 377(18), 1713–1722.

    Article  CAS  PubMed  Google Scholar 

  5. Baranello, G., Darras, B. T., Day, J. W., Deconinck, N., Klein, A., Masson, R., et al. (2021). Risdiplam in Type 1 spinal muscular atrophy. New England Journal of Medicine, 384(10), 915–923.

    Article  CAS  PubMed  Google Scholar 

  6. Munsat, T. L., & Davies, K. E. (1992). International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscular Disorders, 2(5–6), 423–428.

    Article  CAS  PubMed  Google Scholar 

  7. Sansone, V. A., Walter, M. C., Attarian, S., Delstanche, S., Mercuri, E., Lochmüller, H., et al. (2020). Measuring outcomes in adults with spinal muscular atrophy - challenges and future directions - meeting report. Journal of Neuromuscular Diseases, 7(4), 523–534.

    Article  CAS  PubMed  Google Scholar 

  8. Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2), 103–115.

    Article  PubMed  Google Scholar 

  9. Finkel, R. S., Mercuri, E., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders, 28(3), 197–207.

    Article  PubMed  Google Scholar 

  10. Leibrock, B., Landfeldt, E., Hussong, J., Huelle, T., Mattheus, H., Thiele, S., et al. (2023). Areas of improvement in the medical care of SMA: Evidence from a nationwide patient registry in Germany. Orphanet Journal of Rare Diseases, 18(1), 32.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Ravens-Sieberer, U., Erhart, M., Wille, N., Wetzel, R., Nickel, J., & Bullinger, M. (2006). Generic health-related quality-of-life assessment in children and adolescents: Methodological considerations. PharmacoEconomics, 24(12), 1199–1220.

    Article  PubMed  Google Scholar 

  12. Spieth, L. E., & Harris, C. V. (1996). Assessment of health-related quality of life in children and adolescents: An integrative review. Journal of Pediatric Psychology, 21(2), 175–193.

    Article  CAS  PubMed  Google Scholar 

  13. Landfeldt, E., Pechmann, A., McMillan, H. J., Lochmüller, H., & Sejersen, T. (2021). Costs of illness of spinal muscular atrophy: A systematic review. Applied Health Economics and Health Policy, 19(4), 501–520.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Landfeldt, E., Edström, J., Sejersen, T., Tulinius, M., Lochmüller, H., & Kirschner, J. (2019). Quality of life of patients with spinal muscular atrophy: A systematic review. European Journal of Paediatric Neurology, 23(3), 347–356.

    Article  PubMed  Google Scholar 

  15. Landfeldt, E., Leibrock, B., Hussong, J., et al. (2024). Self-reported health-related quality of life of children with spinal muscular atrophy: Insights from a nationwide patient registry in Germany. Journal of Neuromuscular Diseases. 11(1), 117–128.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Herdman, M., Gudex, C., Lloyd, A., Janssen, M. F., Kind, P., Parkin, D., et al. (2011). Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Quality of Life Research, 20, 1727–1736.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Horsman, J., Furlong, W., Feeny, D., & Torrance, G. (2003). The health utilities index (HUI): Concepts, measurement properties and applications. Health and Quality of Life Outcomes, 1, 54.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Ware, J. E., & Sherbourne, C. D. (1992). The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Medical Care, 30, 473–483.

    Article  PubMed  Google Scholar 

  19. Ludwig, K., Graf von der Schulenburg, J. M., & Greiner, W. (2018). German Value Set for the EQ-5D-5L. PharmacoEconomics, 36(6), 663–674.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Feeny, D. H., Furlong, W. J., Torrance, G. W., et al. (2002). Multi-attribute and single-attribute utility functions for the health utilities index mark 3 system. Medical Care, 40, 113–128.

    Article  PubMed  Google Scholar 

  21. Brazier, J., Roberts, J., & Deverill, M. (2002). The estimation of a preference-based measure of health from the SF-36. Journal of Health Economics, 21(2), 271–292.

    Article  PubMed  Google Scholar 

  22. Uchio, Y., Kajima, K., Suzuki, H., Nakamura, K., Saito, M., & Ikai, T. (2022). Pain in spinal muscular atrophy: a questionnaire study. Physical Therapy Research, 25(3), 150–155.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Yao, M., Xia, Y., Feng, Y., Ma, Y., Hong, Y., Zhang, Y., et al. (2021). Anxiety and depression in school-age patients with spinal muscular atrophy: A cross-sectional study. Orphanet Journal of Rare Diseases, 16(1), 385.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Mix, L., Winter, B., Wurster, C. D., Platen, S., Witzel, S., Uzelac, Z., Graf, H., Ludolph, A. C., & Lulé, D. (2021). Quality of life in SMA patients under treatment with nusinersen. Frontiers in Neurology, 29(12), 626787.

    Article  Google Scholar 

  25. Grochtdreis, T., Dams, J., König, H. H., & Konnopka, A. (2019). Health-related quality of life measured with the EQ-5D-5L: Estimation of normative index values based on a representative German population sample and value set. The European Journal of Health Economics, 20(6), 933–944.

    Article  PubMed  Google Scholar 

  26. Henry, E. B., Barry, L. E., Hobbins, A. P., McClure, N. S., & O’Neill, C. (2020). Estimation of an instrument-defined minimally important difference in EQ-5D-5L index scores based on scoring algorithms derived using the EQ-VT version 2 valuation protocols. Value Health., 23(7), 936–944.

    Article  PubMed  Google Scholar 

  27. Eiser, C., & Morse, R. (2001). Quality-of-life measures in chronic diseases of childhood. Health Technology Assessment, 5(4), 1–157.

    Article  CAS  PubMed  Google Scholar 

  28. Pangalila, R. (2016). Quality of life in Duchenne muscular dystrophy: The disability paradox. Developmental Medicine and Child Neurology, 58(5), 435–436.

    Article  PubMed  Google Scholar 

  29. López-Bastida, J., Peña-Longobardo, L. M., Aranda-Reneo, I., Tizzano, E., Sefton, M., & Oliva-Moreno, J. (2017). Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet Journal of Rare Diseases, 12(1), 141.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Landfeldt, E. (2023). Measuring health-related quality of life in duchenne muscular dystrophy: Current perspectives and recommendations. Journal of the Neurological Sciences, 15(446), 120545.

    Article  Google Scholar 

  31. Xu, R. H., Ma, B., Xin, H., Zhang, H., Zeng, Y., Luo, N., & Dong, D. (2023). Measurement properties of the EQ-5D-5L and PROPr in patients with spinal muscular atrophy. Health and Quality of Life Outcomes, 21(1), 123.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Wohnrade, C., Velling, A. K., Mix, L., Wurster, C. D., Cordts, I., Stolte, B., et al. (2023). Health-related quality of life in spinal muscular atrophy patients and their caregivers-a prospective, cross-sectional, multi-center analysis. Brain Sciences, 13(1), 110.

    Article  PubMed  PubMed Central  Google Scholar 

  33. McMillan, H. J., Gerber, B., Cowling, T., Khuu, W., Mayer, M., Wu, J. W., et al. (2021). Burden of spinal muscular atrophy (SMA) on patients and caregivers in Canada. J Neuromuscul Dis., 8(4), 553–568.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Health Utilities Inc (HUInc). HUI Mark2 and Mark3 Reference Population Data. Available from: http://www.healthutilities.com/ (Accessed July 15, 2023).

  35. Belter, L., Cruz, R., & Jarecki, J. (2020). Quality of life data for individuals affected by spinal muscular atrophy: A baseline dataset from the cure SMA community update survey. Orphanet Journal of Rare Diseases, 15(1), 217.

    Article  PubMed  PubMed Central  Google Scholar 

  36. Dangouloff, T., Hiligsmann, M., Deconinck, N., D’Amico, A., Seferian, A. M., Boemer, F., & Servais, L. (2023). Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Developmental Medicine and Child Neurology, 65(1), 67–77.

    Article  PubMed  Google Scholar 

  37. Ellert, U., & Kurth, B. M. (2013). Health-related quality of life in adults in Germany. Bundesgesundheitsbl, 56, 643–649.

    Article  CAS  Google Scholar 

  38. van den Berg, B. (2012). Sf-6d population norms. Health Economics, 21(12), 1508–1512.

    Article  PubMed  Google Scholar 

  39. Walters, S. J., & Brazier, J. E. (2003). What is the relationship between the minimally important difference and health state utility values? The case of the SF-6D. Health and Quality of Life Outcomes, 11(1), 4.

    Article  Google Scholar 

  40. Kruitwagen-Van Reenen, E. T., Wadman, R. I., Visser-Meily, J. M., van den Berg, L. H., Schröder, C., & van der Pol, W. L. (2016). Correlates of health related quality of life in adult patients with spinal muscular atrophy. Muscle and Nerve, 54(5), 850–855.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors would like to sincerely thank all the members of the German SMA community who supported this research with their participation, taking time to answer the questionnaire and sharing information about their physical and mental health and daily lives. We are also very grateful for the financial support provided by the German non-profit patient association “Initiative SMA e.V.”

Funding

The non-profit patient association “Initiative SMA – Gemeinsam für eine Therapie” within the “Deutsche Gesellschaft für Muskelkranke e.V.” provided financial support for the license fees of the proprietary HRQoL instruments, as well as the allowance for the SMA patient registry.

Author information

Authors and Affiliations

  1. IQVIA, Pyramidvägen 7, Solna, SE-169 56, Stockholm, Sweden

    Erik Landfeldt

  2. University of Saarland, Saarbruecken, Germany

    Berenike Leibrock

  3. Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany

    Justine Hussong & Eva Moehler

  4. Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany

    Simone Thiele & Maggie C. Walter

  5. Department of General Pediatrics and Neonatology, Saarland University Hospital, Homburg, Germany

    Michael Zemlin

  6. Department of Neurology, Saarland University, Homburg, Saar, Germany

    Ulrich Dillmann

  7. Department of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany

    Marina Flotats-Bastardas

Authors
  1. Erik Landfeldt
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Berenike Leibrock
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Justine Hussong
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Simone Thiele
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Maggie C. Walter
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Eva Moehler
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Michael Zemlin
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Ulrich Dillmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Marina Flotats-Bastardas
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Erik Landfeldt.

Ethics declarations

Conflicts of interest

Dr Marina Flotats-Bastardas has received consultant fees from Roche and Biogen. Dr Landfeldt is an employee 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 Therapeutics. The other authors declare that there is no conflict of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 19 KB)

Supplementary file2 (DOCX 32 KB)

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Landfeldt, E., Leibrock, B., Hussong, J. et al. Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany. Qual Life Res (2024). https://doi.org/10.1007/s11136-024-03665-5

Download citation

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s11136-024-03665-5

Keywords

Search

Navigation