Results 11 to 20 of about 1,977 (181)
Risdiplam in Type 1 Spinal Muscular Atrophy [PDF]
New England Journal of Medicine, 2021 Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein.We report the results of part 1 of a two-part ...
Baranello, Giovanni +168 more
core +16 more sources
Longitudinal Transcriptomic Analysis Reveals Systemic Effects of Risdiplam in Adults with Spinal Muscular Atrophy [PDF]
Brain SciencesBackground: Spinal Muscular Atrophy (SMA) is a neurodegenerative disease caused by reduced survival motor neuron (SMN) protein levels due to SMN1 gene mutations. The natural history of SMA has dramatically changed since innovative therapies were approved;
Maria Liguori +6 more
doaj +3 more sources
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 +2 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 +2 more sources
Risdiplam for the Use of Spinal Muscular Atrophy [PDF]
Orthopedic Reviews, 2021 Spinal muscular atrophy (SMA) is one of the leading causes of death in infants related to the degeneration of neurons. Currently, there are no curative treatment options for SMA, and many options available may not be feasible. This review presents the background, clinical studies, and indications for the use of Risdiplam in treating SMA.
Juyeon, Kakazu +7 more
openaire +4 more sources
MoleculesRisdiplam is the first approved small-molecule therapy for spinal muscular atrophy (SMA), a severe, progressive neuromuscular disorder. In addition to its clinical significance, risdiplam is of a great interest for organic and medicinal chemistry due to ...
Georgiy Korenev +2 more
doaj +2 more sources
Risdiplam in Presymptomatic Spinal Muscular Atrophy
New England Journal of MedicineRisdiplam, an oral pre-messenger RNA splicing modifier, is an efficacious treatment for persons with symptomatic spinal muscular atrophy (SMA). The safety and efficacy of risdiplam in presymptomatic disease are unclear.We conducted an open-label study of daily oral risdiplam (with the dose adjusted to 0.2 mg per kilogram of body weight) in infants 1 ...
Finkel, RS +21 more
openaire +3 more sources
Recent Trends in PharmacologyObjective: Disease-modifying therapies such as nusinersen and risdiplam have significantly changed the management of spinal muscular atrophy (SMA). In Spain, both are reimbursed under a national pharmacoclinical protocol with registry-based monitoring ...
Roberto Lozano, Carina Bona
doaj +2 more sources
British Journal of Clinical Pharmacology, EarlyView.Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić +4 more
wiley +2 more sources
A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam [PDF]
Scientific ReportsReal-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up.
Olesja Parmova +10 more
doaj +2 more sources