Results 51 to 60 of about 2,700 (197)

Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020

International Journal of Neonatal Screening, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Al-though there was no cure for SMA, newly developed therapeutic drugs (nusinersen, onasemnogene abeparvovec, and risdiplam) have been proven effective for the improvement of
Kentaro Okamoto, Hisahide Nishio, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Yoichi Kondo, Kentaro Kawamura, Yukihiko Konishi, Chiho Tokorodani, Ritsuo Nishiuchi, Mariko Eguchi   +10 more
doaj   +1 more source

Short-Term Safety and Efficacy of Onasemnogene Abeparvovec in 10 Patients with Spinal Muscular Atrophy: Cohort Study

Вопросы современной педиатрии, 2021
Background. The efficacy and safety of onasemnogene abeparvovec have been demonstrated in patients with spinal muscular atrophy (SMA) in several clinical and observational studies.
Kristina S. Nevmerzhitskaya, Elena Yu. Sapego, Daria A. Morozova   +2 more
doaj   +1 more source

Review on zolgensma: Milestone in spinal muscular atrophy [PDF]

, 2022
Disease and disorders are outlined as disablement of the normal state of living organism and annoyance of normal functioning of the body respectively. The ideal causes of the disorders are genetic factors, disease, stress or trauma. Genetic disorders are
Chandralekha, K, Devi, M., Kanimozhi, L, Ruth, J E   +3 more
core   +3 more sources

Is gene therapy in spinal muscular atrophy safe? A casereport of thrombotic microangiopathy following onasemnogene abeparvovec

Journal of Pre-Clinical and Clinical Research, 2022
Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 gene. Diagnosis of the disease is based mainly on the presence of hypotonia and symmetrical [1].
Aleksandra Ziółkiewicz, Michał Bielak, Iwona Welian, Magdalena Chrościńska- Krawczyk   +3 more
doaj   +1 more source

Interim Analysis of Treatment Outcomes of Young Children with 5q Spinal Muscular Atrophy on Gene Replacement Therapy with Onasemnogene Abeparvovec. Clinical Observations

Вопросы современной педиатрии, 2023
Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective ...
Anna A. Kokorina, Sergei S. Nikitin
doaj   +1 more source

Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth

Molecular Genetics and Metabolism Reports, 2023
Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule ...
Takaaki Sawada, Jun Kido, Yukako Yae, Kotaro Yuge, Keiko Nomura, Kentaro Okada, Natsumi Fujiyama, Shiro Ozasa, Kimitoshi Nakamura   +8 more
doaj   +1 more source

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands [PDF]

, 2022
Objectives: Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and paralysis. In its most common and severe form, the majority of untreated infants die before 2 years of age.
Bischof, Matthias, Boersma, Cornelis, Postma, Maarten, van der Schans, Simon, van Olden, Rudolf Walther, Velikanova, Rimma   +5 more
core   +2 more sources

Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

Orphanet Journal of Rare Diseases, 2021
Background Spinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcare decision-making, this review ...
Tamara Dangouloff, Camille Botty, Charlotte Beaudart, Laurent Servais, Mickaël Hiligsmann   +4 more
doaj   +1 more source

Timing is everything:Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy (SMA) [PDF]

, 2022
Two new studies by Strauss et al. demonstrated safe and effective pre-symptomatic delivery of gene therapy in children with spinal muscular atrophy (SMA).(1)(,)(2) These results highlight the importance of newborn screening programs and early therapy ...
Gillingwater, Thomas H, Motyl, Anna
core   +2 more sources

Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective

Molecular and Cellular Pediatrics, 2023
Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases.
Michelle A. Farrar, Loudella Calotes-Castillo, Ranil De Silva, Peter Barclay, Lani Attwood, Julie Cini, Monica Ferrie, Didu S. Kariyawasam   +7 more
doaj   +1 more source