Results 41 to 50 of about 2,204 (179)
Frontiers in Neurology, 2020 Spinal Muscular Atrophy (SMA) is monogenic motoneuron disease caused by low levels of the Survival of Motoneuron protein (SMN). Recently, two different drugs were approved for the treatment of the disease.
Niko Hensel +5 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2021 In recent years, gene therapy has been raising hopes toward viable treatment strategies for rare genetic diseases for which there has been almost exclusively supportive treatment. We here review this progress at the pre-clinical and clinical trial levels
Thomas Leth Jensen +2 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló +5 more
wiley +1 more source
, 2023 L’Amyotrophie Musculaire Spinale (SMA) est une pathologie neuromusculaire rare d’origine génétique caractérisée par une hypotonie, une atrophie et une faiblesse musculaire progressive.
Blaisot, Élody
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CASE REPORT: Liver Failure in a 4-month-old male with SMA type 2 after gene therapy/Onasemnogene abeparvovec (Zolgensma) [PDF]
, 2023 Introduction: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration of the anterior horn cells in the spinal cord and the brain stem nuclei. The onset of weakness ranges from before birth to
Hager, Juliana, Paul, Dustin J.
core
Cells, 2022 Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and one of the most common genetic causes of infant death. It is characterized by progressive weakness of the muscles, loss of ambulation, and death from respiratory ...
Tejal Aslesh, Toshifumi Yokota
doaj +1 more source
Precision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain +3 more
wiley +1 more source
What Makes an “Ideal” Cell Line for Recombinant Adeno‐Associated Virus Production?
Biotechnology and Bioengineering, EarlyView.Several host cell types have been used to produce rAAVs to date. Cell line‐specific traits that are beneficial in the context of rAAV manufacturing are reviewed here, with the goal of developing a consensus on the ‘ideal’ characteristics that an rAAV production host should possess (created with Biorender.com).
James Conheady +6 more
wiley +1 more source
Advances and limitations for the treatment of spinal muscular atrophy
BMC Pediatrics, 2022 Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day +6 more
doaj +1 more source
ChildrenBackground/Objectives: Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease resulting in proximal muscle weakness and paralysis. SMA treatment has radically changed in the past 10 years thanks to the development of novel therapies ...
Erin Toaz +3 more
doaj +1 more source