Review of therapeutic options for spinal muscular atrophy [PDF]
Scripta Medica, 2021 Spinal Muscular Atrophy (SMA) is uncommon genetic (autosomal recessive) disease that deteriorates neuromuscular function of the affected person's body by causing lower motor neuron damage, progress in muscle atrophy and in advanced cases leads to ...
Singh Arun +6 more
doaj +1 more source
Health economic evaluation of risdiplam in patients with spinal muscular atrophy
Фармакоэкономика, 2021 Background. Spinal muscular atrophies (SMA) are clinically and genetically heterogenous inherited orphan diseases leading to progressive spinal motoneurons degeneration and loss of function.
А. S. Kolbin +4 more
doaj +1 more source
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey [PDF]
, 2023 ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 ...
Boccia, Stefania +6 more
core +6 more sources
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Annals of Clinical and Translational Neurology, 2022 Objective The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options access to risdiplam prior to commercial availability.
Jennifer M. Kwon +14 more
doaj +1 more source
Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]
Анналы клинической и экспериментальной неврологии, 2023 5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
doaj +1 more source
Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review. [PDF]
Orphanet J Rare DisBackgroundSpinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, onasemnogene abeparvovec, and ...
Yousefi M +9 more
europepmc +3 more sources
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification [PDF]
, 2023 We sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios.
Benguerba, K +13 more
core +4 more sources
Orphanet Journal of Rare Diseases, 2022 Background The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) 1/2/3 or with 1–4 SMN2 gene ...
Andreas Hahn +10 more
doaj +1 more source
Brain Sciences, 2023 Spinal muscular atrophy (SMA) is a rare neuromuscular disease, with an estimated incidence of about 1 in 10,000 live births. To date, three orphan drugs have been approved for the treatment of SMA: nusinersen, onasemnogene abeparvovec, and risdiplam. The
Salvatore Crisafulli +4 more
doaj +1 more source
INNOVATIVE THERAPIES IN GENETIC DISEASES: SPINAL MUSCULAR ATROPHY [PDF]
Romanian Journal of Pediatrics, 2021 Spinal muscular atrophy is a congenital neuromuscular disease characterized by the deterioration of the motor neurons located mainly in the anterior horns of the spinal cord, leading to progressive muscle weakness and atrophy.
Elena-Silvia Shelby, Andrada Mirea
doaj +1 more source