Spinal Muscular Atrophy.

Genetic Therapy Humans Infant, Newborn Muscular Atrophy, Spinal / diagnosis Neonatal Screening

Journal

Seminars in pediatric neurology
ISSN: 1558-0776
Titre abrégé: Semin Pediatr Neurol
Pays: United States
ID NLM: 9441351

Informations de publication

Date de publication:
04 2021
Historique:
received: 07 09 2020
revised: 07 12 2020
accepted: 07 12 2020
entrez: 24 4 2021
pubmed: 25 4 2021
medline: 15 12 2021
Statut: ppublish

Résumé

Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.

Identifiants

DOI: 10.1016/j.spen.2021.100878 PMID: 33892848
pubmed: 33892848
pii: S1071-9091(21)00006-1
doi: 10.1016/j.spen.2021.100878
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

100878

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Auteurs

Stefan Nicolau (S)

Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH. Electronic address: Stefan.nicolau@nationwidechildrens.org.

Megan A Waldrop (MA)

Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.

Anne M Connolly (AM)

Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.

Jerry R Mendell (JR)

Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.

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Classifications MeSH

questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Thérapie génétique › Spinal Muscular Atrophy.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Spinal Muscular Atrophy.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Spinal Muscular Atrophy.
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies du motoneurone › Amyotrophie spinale › Spinal Muscular Atrophy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Spinal Muscular Atrophy.