03.01.2022 – The Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD) collects medical data on spinal muscular atrophy (SMA) and other rare neuromuscular disorders. It also now provides a national platform for postmarketing surveillance of new disease-modifying therapies and research on rare neuromuscular disorders.
«Spinal muscular atrophy is a rare disease that affects motor neurons and causes weakness of skeletal and respiratory muscles,» said Andrea Klein, a pediatric neurologist at the Inselspital and clinical lead of the Swiss-Reg-NMD. «Untreated, it is the most common hereditary cause for infant death. Since we have three new therapies, it is important to collect data on efficacy and safety in the real world setting.»
SMA is a genetic neuromuscular disorder characterized by the loss of motor neurons, causing progressive skeletal and respiratory muscle weakness. Motor development is affected and achieved motor functions can be lost later, such as sitting or walking, and the need for feeding or ventilator support can arise.
Since 2008, the Swiss-Reg-NMD has collected data about children and adults with SMA. The first effective therapy for SMA was approved in Switzerland in September 2017. This year, two additional disease-modifying therapies were approved, including a gene replacement therapy.
Swiss-Reg-NMD data allow monitoring the safety and effectiveness of all three approved therapies. Such information is crucial for patients and treating physicians to optimize future care. For third-party payers and regulatory agencies, postmarketing surveillance provides additional evidence about the safety and effectiveness of these novel treatments.
The Swiss-Reg-NMD registry is part of the Paediatric and Rare Disease Registries’ group and is coordinated by Anne Tscherter and Dominique Baumann. It collects real world medical data from people diagnosed with SMA, Duchenne-Becker muscular dystrophy (DMD/BMD), and LAMA2-related MD.
The registry facilitates the inclusion of patients in therapeutic trials in Switzerland and other types of research. It offers a platform to 1) assess the overall outcome of treated patients and 2) improve communication and collaboration in the neuromuscular community. Based on better knowledge, it improves the current and future care and well-being of individuals with neuromuscular disorders.
Its close collaboration with the international platform TREAT-NMD enables data comparison with other cohorts. The registry does not disclose individual patient data to government agencies, health insurers, or pharmaceutical industry.
More information can be found on the Swiss-Reg-NMD webpage.