Results 41 to 50 of about 2,038 (184)
Areas of improvement in the medical care of SMA : evidence from a nationwide patient registry in Germany [PDF]
, 2023 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.
Abner, Sophia +11 more
core +1 more source
Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi
Frontiers in Neurology, 2023 Background/ObjectiveNeurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum
Marina Flotats-Bastardas +10 more
doaj +1 more source
2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia
Frontiers in Pediatrics, 2021 Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored.
Fahad A. Bashiri +8 more
doaj +1 more source
SMA Therapy in Poland: New Hopes and Challenges [PDF]
, 2023 : Spinal muscular atrophy (SMA) is a genetically inherited disease whose symptoms appear in children at a fairly early age. The main cause of the disease is a mutation of the SMN1 gene, which causes the lack of production of SMN This results in the ...
Chrościńska-Krawczyk, Magdalena +4 more
core +1 more source
Combinatorial treatment for spinal muscular atrophy [PDF]
, 2020 Spinal muscular atrophy (SMA) is a severe autosomal recessive motor neuron disease caused by loss of SMN1, which encodes a protein essential for motor neuron survival.
A. Poletti, K.H. Fischbeck
core +1 more source
British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source
Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis
British Journal of Clinical Pharmacology, EarlyView.Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley +1 more source
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 +1 more source
Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy. [PDF]
Background and Objective Untreated spinal muscular atrophy (SMA) is the leading genetic cause of death in children younger than 2 years of age. Early detection through newborn screening allows for presymptomatic diagnosis and treatment of SMA.
Bischof M +5 more
core +1 more source
Clinical Pharmacology in Drug Development, EarlyView.Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee +5 more
wiley +1 more source