ArticleOrphanet journal of rare diseases2016
Disease burden of spinal muscular atrophy in Germany.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 8 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
63 citing papers in PubMed, 8 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.PharmacoEconomics · 2023Pooled it
- Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.Orphanet journal of rare diseases · 2022Pooled it
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.PharmacoEconomics · 2022Pooled it
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).PharmacoEconomics · 2022Pooled it
- Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.Applied health economics and health policy · 2021Pooled it
- Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.Orphanet journal of rare diseases · 2021Pooled it
- Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.Pediatric pulmonology · 2019Trial
- Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran.Orphanet journal of rare diseases · 2026Article
- Medical Absenteeism and Premature Death in Spinal Muscular Atrophy in Sweden: A Population-Based Matched Register Study of People of Working Age.Advances in therapy · 2026Article
- Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action.Orphanet journal of rare diseases · 2026Article
- A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada.Orphanet journal of rare diseases · 2025Article
- Cost comparison analysis of onasemnogene abeparvovec and nusinersen for treatment of patients with spinal muscular atrophy type 1 in the Netherlands.The European journal of health economics : HEPAC : health economics in prevention and care · 2025Article
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.Neurology and therapy · 2025Article
- Review
- Healthcare Resource Utilization, Economic Burden, and Multi-Level Medical Security System for Individuals with Spinal Muscular Atrophy in Shaanxi Province, China.Healthcare (Basel, Switzerland) · 2025Article
- Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden.The European journal of health economics : HEPAC : health economics in prevention and care · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- AI-boosted and motion-corrected, wireless near-infrared sensing system for continuously monitoring laryngeal muscles.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study aimed at analyzing the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality.
methodsIn a cross-sectional study we analyzed the cost of illness (COI) and factors that influence the direct, indirect and informal care costs of affected patients and their families by using standardized, self-developed questionnaires. We used the PedsQL™(©) Measurement Model to analyze the disease-specific HRQOL of patients.
resultsOne hundred eighty nine patients with SMA types I to III aged <1 to 73 years were enrolled. The average annual COI was estimated at €70,566 per patient in 2013. The highest cost resulted in SMA I with significant lower costs for the milder phenotypes. Inversely, the self-estimated HRQOL increased from SMA I to SMA III. Major cost drivers were informal care cost and indirect cost incurred by patients and their caregivers.
conclusionsAlthough SMA requires high standards of care, there has been a distinct lack of health services research on SMA. Accordingly, our results significantly contribute to a more comprehensive insight into the current burden of SMA and quality of life status as related to SMA health services in Germany. In the light of innovative therapeutic interventions, our results suggest a notable potential for a reduction in overall COI and improvement of HRQOL if the therapeutic intervention leads to a less severe course of the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.