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

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.

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

“…However, an additional explanation for this "lower respiratory prevalence" could be due to the gradual progression of symptoms, with patients adapting their daily activities and not actively reporting respiratory problems. It may also be due to increased "medical awareness" within the healthcare community, which is now more vigilant than in previous years in monitoring and treating any co-morbidities associated with SMA [ 28 ].…”

Spinal Muscular Atrophy Scoliosis in the Era of Background Therapies—A Review of the Literature

“…The classification of SMA is evolving from traditional subtypes to a more detailed approach that considers the age of onset, number of SMN2 copies, age at initiation of drug treatment, and current motor function levels (non-sitter, sitter, walker) to define clinical phenotypes. This allows for more precise monitoring of disease progression and enhances the tailoring of medical care [ 32 , 56 ].…”

Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany

“…These drugs have been shown to have the potential to transform the natural disease evolution, thereby challenging the traditional classification of patients into static subtypes [5][6][7]. Indeed, we have shown that improvements to the medical management, including the introduction of novel therapies, appears to have altered the disease trajectory among children and adults with SMA in Germany [8]. As a result, in line with current standards of care, a complementary disease classification, made in terms of current best motor function of the lower limb and trunk, has been proposed for SMA in response to the observed changes in patterns of morbidity and disability [9,10].…”