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49 results

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Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.
Schorling DC, Pechmann A, Kirschner J. Schorling DC, et al. J Neuromuscul Dis. 2020;7(1):1-13. doi: 10.3233/JND-190424. J Neuromuscul Dis. 2020. PMID: 31707373 Free PMC article. Review.
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. ...In this review we provide an overview of available and emerging therapies for spinal …
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neuro …
Emerging therapies and challenges in spinal muscular atrophy.
Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC. Farrar MA, et al. Ann Neurol. 2017 Mar;81(3):355-368. doi: 10.1002/ana.24864. Epub 2017 Feb 17. Ann Neurol. 2017. PMID: 28026041 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). ...In advance of upcoming clinic …
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantil …
Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency.
Butterfield RJ. Butterfield RJ. Semin Pediatr Neurol. 2021 Jul;38:100899. doi: 10.1016/j.spen.2021.100899. Epub 2021 May 29. Semin Pediatr Neurol. 2021. PMID: 34183144 Free PMC article. Review.
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by loss of motor neurons leading to muscle weakness and atrophy. The United States' Food and Drug Administration's (FDA) approval of nusinersen, onasemnogene abeparvove …
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by loss of motor neurons leading to …
Gene-based therapies for neurodegenerative diseases.
Sun J, Roy S. Sun J, et al. Nat Neurosci. 2021 Mar;24(3):297-311. doi: 10.1038/s41593-020-00778-1. Epub 2021 Feb 1. Nat Neurosci. 2021. PMID: 33526943 Free PMC article. Review.
The recent success of a viral-vector-based gene therapy in spinal muscular atrophy-promoting survival and motor function with a single intravenous injection-offers a paradigm for such therapeutic intervention and a platform to build on. ...Surely sp …
The recent success of a viral-vector-based gene therapy in spinal muscular atrophy-promoting survival and motor …
Gene therapy for alpha-1 antitrypsin deficiency: an update.
Pires Ferreira D, Gruntman AM, Flotte TR. Pires Ferreira D, et al. Expert Opin Biol Ther. 2023 Mar;23(3):283-291. doi: 10.1080/14712598.2023.2183771. Epub 2023 Mar 2. Expert Opin Biol Ther. 2023. PMID: 36825473 Free article. Review.
Because AATD is caused by mutations in a single gene whose correction alone would normalize the mutant phenotype, it has become a popular target for both augmentation gene therapy and gene editing. Although gene therapy products are already a reality for the treatme …
Because AATD is caused by mutations in a single gene whose correction alone would normalize the mutant phenotype, it has become a popular ta …
New and developing therapies in spinal muscular atrophy.
Kariyawasam D, Carey KA, Jones KJ, Farrar MA. Kariyawasam D, et al. Paediatr Respir Rev. 2018 Sep;28:3-10. doi: 10.1016/j.prrv.2018.03.003. Epub 2018 Apr 5. Paediatr Respir Rev. 2018. PMID: 29703692 Review.
Great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy (SMA), including measures to selectively address Survival Motor Neuron (SMN) protein deficiency with SMN1 gene replacement or modulation of …
Great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy …
Spinal muscular atrophy - insights and challenges in the treatment era.
Mercuri E, Pera MC, Scoto M, Finkel R, Muntoni F. Mercuri E, et al. Nat Rev Neurol. 2020 Dec;16(12):706-715. doi: 10.1038/s41582-020-00413-4. Epub 2020 Oct 14. Nat Rev Neurol. 2020. PMID: 33057172 Review.
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deletion or mutation of SMN1. ...Trials have now demonstrated that phenotypic rescue is even more dramatic when pre-symptomatic patients are treated, and emerging re …
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deletion or mutation of SMN1. .. …
Advances in therapy for spinal muscular atrophy: promises and challenges.
Groen EJN, Talbot K, Gillingwater TH. Groen EJN, et al. Nat Rev Neurol. 2018 Apr;14(4):214-224. doi: 10.1038/nrneurol.2018.4. Epub 2018 Feb 9. Nat Rev Neurol. 2018. PMID: 29422644 Review.
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly affects children and represents the most common cause of hereditary infant mortality. ...At the same time, promising data from early-stage clinical trials of SMN1 gene t …
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly affects children and represents …
Gene therapy for CNS disorders: modalities, delivery and translational challenges.
Gao J, Gunasekar S, Xia ZJ, Shalin K, Jiang C, Chen H, Lee D, Lee S, Pisal ND, Luo JN, Griciuc A, Karp JM, Tanzi R, Joshi N. Gao J, et al. Nat Rev Neurosci. 2024 Aug;25(8):553-572. doi: 10.1038/s41583-024-00829-7. Epub 2024 Jun 19. Nat Rev Neurosci. 2024. PMID: 38898231 Review.
Gene therapy is emerging as a powerful tool to modulate abnormal gene expression, a hallmark of most CNS disorders. The transformative potentials of recently approved gene therapies for the treatment of spinal muscular atrophy (SMA), amyo …
Gene therapy is emerging as a powerful tool to modulate abnormal gene expression, a hallmark of most CNS disorders. The transf …
An Overview of Nonclinical and Clinical Liver Toxicity Associated With AAV Gene Therapy.
Whiteley LO. Whiteley LO. Toxicol Pathol. 2023 Oct;51(7-8):400-404. doi: 10.1177/01926233231201408. Epub 2023 Sep 29. Toxicol Pathol. 2023. PMID: 37772805 Review.
This interest in the field of gene therapy by industry has been enhanced by the recent success of approved therapies for curing genetic diseases such as ZOLGENSMA for spinal muscular atrophy and LUXTURNA for Leber congenital amaurosis. However, …
This interest in the field of gene therapy by industry has been enhanced by the recent success of approved therapies for curin …
49 results