Literature DB >> 32843442

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes.

Megan A Waldrop1,2, Cassandra Karingada3, Mike A Storey4, Brenna Powers2, Megan A Iammarino2, Natalie F Miller2, Lindsay N Alfano2, Garey Noritz5, Ian Rossman6, Matthew Ginsberg6, Kathryn A Mosher7, Eileen Broomall8, Jessica Goldstein9, Nancy Bass9, Linda P Lowes2, Chang-Yong Tsao10,3, Jerry R Mendell10,2, Anne M Connolly10,2.   

Abstract

BACKGROUND AND OBJECTIVES: Historically, autosomal recessive 5q-linked spinal muscular atrophy (SMA) has been the leading inherited cause of infant death. SMA is caused by the absence of the SMN1 gene, and SMN1 gene replacement therapy, onasemnogene abeparvovec-xioi, was Food and Drug Administration approved in May 2019. Approval included all children with SMA age <2 years without end-stage weakness. However, gene transfer with onasemnogene abeparvovec-xioi has been only studied in children age ≤8 months.
METHODS: In this article, we report key safety and early outcome data from the first 21 children (age 1-23 months) treated in the state of Ohio.
RESULTS: In children ≤6 months, gene transfer was well tolerated. In this young group, serum transaminase (aspartate aminotransferase and alanine aminotransferase) elevations were modest and not associated with γ glutamyl transpeptidase elevations. Initial prednisolone administration matched that given in the clinical trials. In older children, elevations in aspartate aminotransferase, alanine aminotransferase and γ glutamyl transpeptidase were more common and required a higher dose of prednisolone, but all were without clinical symptoms. Nineteen of 21 (90%) children experienced an asymptomatic drop in platelets in the first week after treatment that recovered without intervention. Of the 19 children with repeated outcome assessments, 11% (n = 2) experienced stabilization and 89% (n = 17) experienced improvement in motor function.
CONCLUSIONS: In this population, with thorough screening and careful post-gene transfer management, replacement therapy with onasemnogene abeparvovec-xioi is safe and shows promise for early efficacy.
Copyright © 2020 by the American Academy of Pediatrics.

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Year:  2020        PMID: 32843442     DOI: 10.1542/peds.2020-0729

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  18 in total

Review 1.  Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy.

Authors:  Hannah A Blair
Journal:  CNS Drugs       Date:  2022-08-12       Impact factor: 6.497

Review 2.  Dravet Syndrome: Novel Approaches for the Most Common Genetic Epilepsy.

Authors:  Lori L Isom; Kelly G Knupp
Journal:  Neurotherapeutics       Date:  2021-08-10       Impact factor: 6.088

3.  Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.

Authors:  Kevin A Strauss; Michelle A Farrar; Francesco Muntoni; Kayoko Saito; Jerry R Mendell; Laurent Servais; Hugh J McMillan; Richard S Finkel; Kathryn J Swoboda; Jennifer M Kwon; Craig M Zaidman; Claudia A Chiriboga; Susan T Iannaccone; Jena M Krueger; Julie A Parsons; Perry B Shieh; Sarah Kavanagh; Sitra Tauscher-Wisniewski; Bryan E McGill; Thomas A Macek
Journal:  Nat Med       Date:  2022-06-17       Impact factor: 87.241

Review 4.  Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology.

Authors:  Gemma L Carvill; Tyler Matheny; Jay Hesselberth; Scott Demarest
Journal:  Neurotherapeutics       Date:  2021-10-14       Impact factor: 6.088

5.  Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA).

Authors:  Mary Curry; Rosángel Cruz; Lisa Belter; Mary Schroth; Megan Lenz; Jill Jarecki
Journal:  BMC Pediatr       Date:  2021-05-17       Impact factor: 2.125

Review 6.  Current Clinical Applications of In Vivo Gene Therapy with AAVs.

Authors:  Jerry R Mendell; Samiah A Al-Zaidy; Louise R Rodino-Klapac; Kimberly Goodspeed; Steven J Gray; Christine N Kay; Sanford L Boye; Shannon E Boye; Lindsey A George; Stephanie Salabarria; Manuela Corti; Barry J Byrne; Jacques P Tremblay
Journal:  Mol Ther       Date:  2020-12-10       Impact factor: 11.454

7.  Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment.

Authors:  Alisha Monnette; Er Chen; Dongzhe Hong; Alessandra Bazzano; Stacy Dixon; W David Arnold; Lizheng Shi
Journal:  Orphanet J Rare Dis       Date:  2021-01-20       Impact factor: 4.123

Review 8.  Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.

Authors:  Maria Jędrzejowska
Journal:  Degener Neurol Neuromuscul Dis       Date:  2020-12-15

9.  Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec -A Single Centre Experience.

Authors:  Johannes Friese; Stephanie Geitmann; Dorothea Holzwarth; Nicole Müller; Robert Sassen; Ute Baur; Kristin Adler; Janbernd Kirschner
Journal:  J Neuromuscul Dis       Date:  2021

Review 10.  Lafora disease: Current biology and therapeutic approaches.

Authors:  S Mitra; E Gumusgoz; B A Minassian
Journal:  Rev Neurol (Paris)       Date:  2021-07-21       Impact factor: 4.313

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