Results 51 to 60 of about 3,107 (205)

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

Eculizumab for Thrombotic Microangiopathy Induced by Onasemnogene Abeparvovec in Spinal Muscular Atrophy. [PDF]

Case Rep Nephrol Dial
Introduction: Onasemnogene abeparvovec is one of the three disease-modifying therapies available that can significantly improve the outcome of patients with 5q-spinal muscular atrophy.
Levart TK, Kar NO, Pegan CM, Vrščaj E, Gergeli AT, Loboda T, Osredkar D.   +6 more
europepmc   +2 more sources

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

Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry

Journal of Neuromuscular Diseases
We evaluated the safety and effectiveness of onasemnogene abeparvovec (OA) for 34 patients with spinal muscular atrophy (SMA) and tracheostomies enrolled in the RESTORE registry. Most patients (76.5%) received other SMA treatments before and/or after OA.
Yasemin Erbaş, Laurent Servais, Perry B. Shieh, Natalie L. Goedeker, Megan A. Waldrop, Ryosuke Bo, Dheeraj Raju, Kamal Benguerba, Sandra P. Reyna, David Wolff, Richard S. Finkel   +10 more
openalex   +2 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

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

Level of circulating neurofilaments as a biomarker of spinal muscular atrophy during gene therapy with onasemnogene abeparvovec

L O Badalyan Neurological Journal
The aim of the study is to analyze all current data on the role of the level of circulating neurofilament as a biomarker for spinal muscular atrophy (SMA) during gene therapy with onasemnogene abeparvovec.
Daria A. Chudakova, Eugeniya V. Uvakina
openalex   +3 more sources

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