Gene therapy for spinal muscular atrophy: the Qatari experience.
Journal
Gene therapy
ISSN: 1476-5462
Titre abrégé: Gene Ther
Pays: England
ID NLM: 9421525
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
08
12
2020
accepted:
16
06
2021
revised:
02
06
2021
pubmed:
20
7
2021
medline:
3
3
2022
entrez:
19
7
2021
Statut:
ppublish
Résumé
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma
Identifiants
pubmed: 34276047
doi: 10.1038/s41434-021-00273-7
pii: 10.1038/s41434-021-00273-7
pmc: PMC8599021
doi:
Substances chimiques
Bilirubin
RFM9X3LJ49
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
676-680Informations de copyright
© 2021. The Author(s).
Références
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–65.
doi: 10.1016/0092-8674(95)90460-3
Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews
Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12:124.
doi: 10.1186/s13023-017-0671-8
Al-Rajeh S, Bademosi O, Gascon GG, Stumpf D. Werdnig Hoffman’s disease (spinal muscular atrophy type I): A clinical study of 25 Saudi nationals in Al-Khobar. Ann Saudi Med. 1992;12:67–71.
doi: 10.5144/0256-4947.1992.67
al Rajeh S, Bademosi O, Ismail H, Awada A, Dawodu A, al-Freihi H, et al. A community survey of neurological disorders in Saudi Arabia: the Thugbah study. Neuroepidemiology. 1993;12:164–78.
doi: 10.1159/000110316
Rajab A, Bappal B, Al-Shaikh H, Al-Khusaibi S, Mohammed AJ. Common autosomal recessive diseases in Oman derived from a hospital-based registry. Community Genet. 2005;8:27–30.
doi: 10.1159/000083334
al-Gazali LI, Dawodu AH, Sabarinathan K, Varghese M. The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. J Med Genet. 1995;32:7–13.
doi: 10.1136/jmg.32.1.7
Shawkya RM, El-Sayedb NS. Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians. Egyptian J Med Hum Genet. 2011;12:25–30.
doi: 10.1016/j.ejmhg.2011.02.015
Al Jumah M, Majumdar R, Rehana Z, Al Rajeh S, Eyaid W. A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia. J Pediatric Neurol. 2007;5:221–4.
Albrechtsen SS, Born AP, Boesen MS. Nusinersen treatment of spinal muscular atrophy—a systematic review. Dan Med J. 2020;67:A02200100.
pubmed: 32800069
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377:1713–22.
doi: 10.1056/NEJMoa1706198
Lowes LP, Alfano LN, Arnold WD, Shell R, Prior TW, McColly M, et al. Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy. Pediatr Neurol. 2019;98:39–45.
doi: 10.1016/j.pediatrneurol.2019.05.005
Al-Zaidy SA, Kolb SJ, Lowes L, Alfano LN, Shell R, Church KR, et al. AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort. J Neuromuscul Dis. 2019;6:307–17.
doi: 10.3233/JND-190403
Waldrop MA, Karingada C, Storey MA, Powers B, Iammarino MA, Miller NF, et al. Gene therapy for spinal muscular atrophy: safety and early outcomes. Pediatrics. 2020;146:e20200729.
doi: 10.1542/peds.2020-0729
Friese J, Geitmann S, Holzwarth D, Muller N, Sassen R, Baur U, et al. Safety monitoring of gene therapy for spinal muscular atrophy with onasemnogene abeparvovec—a single centre experience. J Neuromuscul Dis. 2021;8:209–16.
doi: 10.3233/JND-200593
Glanzman AM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, et al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20:155–61.
doi: 10.1016/j.nmd.2009.11.014
Chand D, Mohr F, McMillan H, Tukov FF, Montgomery K, Kleyn A, et al. Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy. J Hepatol. 2020;74:560–6.
doi: 10.1016/j.jhep.2020.11.001
Feldman AG, Parsons JA, Dutmer CM, Veerapandiyan A, Hafberg E, Maloney N, et al. Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1. J Pediatr. 2020;225:252–8.e251.
doi: 10.1016/j.jpeds.2020.05.044
Chand DH, Zaidman C, Arya K, Millner R, Farrar MA, Mackie FE, et al. Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series. J Pediatr. 2020;231:265–8.
doi: 10.1016/j.jpeds.2020.11.054
Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2020;28:38–43.
doi: 10.1016/j.ejpn.2020.07.001
Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, et al. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017;81:355–68.
doi: 10.1002/ana.24864