Observational studyOrphanet journal of rare diseases2023
Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany.
Observational study in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
9 citing papers in PubMed, 12 citations in OpenAlex.
- Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers - results from a nation-wide study in Germany.Orphanet journal of rare diseases · 2026Article
- A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.Journal of neuromuscular diseases · 2025Review
- Agreement Between Child Self- and Parent Proxy-Reports of Health-Related Quality of Life in Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.Patient related outcome measures · 2025Article
- A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.The Lancet regional health. Western Pacific · 2024Article
- Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.Journal of neurology · 2024Article
- Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024Article
- Spinal Muscular Atrophy Scoliosis in the Era of Background Therapies-A Review of the Literature.Journal of clinical medicine · 2024Review
- 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.Journal of neurology · 2024Article
- Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.Journal of neuromuscular diseases · 2024Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundManagement 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.
resultsThe 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.
conclusionsWe 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.
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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.