Population Physiologically-Based Pharmacokinetic Modeling to Determine Ontogeny: A Quantitative Clinical Pharmacology Example in Pediatric Rare Disease. [PDF]
CPT Pharmacometrics Syst PharmacolABSTRACT Pediatric physiologically‐based pharmacokinetic (PBPK) modelling plays an increasing role in selecting doses in children and addressing clinical pharmacology questions. Ethical concerns often limit clinical pharmacology studies that have no direct therapeutic benefit in children, highlighting the value of PBPK model predictions.
Cleary Y +4 more
europepmc +2 more sources
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
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
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) [PDF]
, 2023 Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, investigated the ...
Baranello, Giovanni +22 more
core +4 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 +1 more source
Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy. [PDF]
JCI InsightSpinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of survival motor neuron (SMN) protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms.
Genovese F +17 more
europepmc +3 more sources
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
Brain Sciences, 2023 Objective: We performed a systematic review and meta-analysis of the efficacy and safety of nusinersen and risdiplam in the treatment of spinal muscular disease (SMA).
Yue Qiao, Yuewei Chi, Jian Gu, Ying Ma
doaj +1 more source