Evidence map›Paper›PMID 39370660›Full record

ArticleMuscle & nerve2024

Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study.

Natalie L Goedeker, Amanda Rogers, Mark Fisher, Kapil Arya, John F Brandsema, Hiba Farah, Michelle A Farrar, Marcia V Felker, Melissa Gibbons, Omer Abdul Hamid and 11 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Muscle & nerve, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Review
  6. Article
  7. Clinical perspectives: Treating spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Natalie L GoedekerDepartment of Neurology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.ORCID https://orcid.org/0000-0003-3071-1703
Amanda RogersDepartment of Pediatrics, Norton Children's Medical Group, University of Louisville, Louisville, Kentucky, USA.
Mark FisherDepartment of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
Kapil AryaDepartment of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas, USA.
John F BrandsemaDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hiba FarahDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Michelle A FarrarSydney Children's Hospital Network and Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Marcia V FelkerDivision of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Melissa GibbonsDepartment of Pediatrics Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Omer Abdul HamidDepartment of Pediatrics, Nemours Children's Health, Orlando, Florida, USA.
Matthew HarmelinkDepartment of Neurology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Karen HerbertSydney Children's Hospital Network and Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Elizabeth KichulaDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Kiana KingDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Arpita LakhotiaDepartment of Pediatrics, Norton Children's Medical Group, University of Louisville, Louisville, Kentucky, USA.
Bo Hoon LeeDepartment of Neurology, University of Rochester, Rochester, New York, USA.
Nancy L KuntzDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Julie ParsonsDepartment of Pediatrics Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Rebecca RehborgDepartment of Neurology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Aravindhan VeerapaniyanDepartment of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas, USA.ORCID https://orcid.org/0000-0002-3065-3956
Craig M ZaidmanDepartment of Neurology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.

Funding

WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
National Center for Advancing Translational Sciences (NCATS)National Institutes of Health (NIH) UL1TR002345NCATS NIH HHS UL1 TR002345
6 · The paper itself

Abstract

INTRODUCTION/

aimsWhile prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management and outcomes of early-treated infants with SMA.

methodsWe analyzed retrospective data at 12 centers on infants with SMA treated at age ≤6 weeks from August 2018 to December 2023.

resultsSixty-six patients, 35 with two SMN2 copies and 31 with ≥3 SMN2 copies, were included. Twenty-five (38%, 22 with two SMN2 copies), had SMA findings before initial treatment which was onasemnogene abeparvovec in 47 (71%) and nusinersen in 19 (29%). Thirty-two received sequential or combination treatments, including 16 adding nusinersen or risdiplam due to SMA findings following onasemnogene abeparvovec. All sat independently. Compared to children with ≥3 SMN2 copies, those with two SMN2 copies were less likely to walk (23/34 [68%] vs. 31/31 [100%], p < .001) and less likely to walk on time (9/34 [26%] vs. 29/31 [94%], p < .001); one non-ambulatory child was <18 months old and was excluded from this analysis. No patients required permanent ventilation or exclusively enteral nutrition; six required nocturnal non-invasive ventilation and four utilized supplemental enteral nutrition, all with two SMN2 copies. DISCUSSION: Early treatment of infants with SMA can improve outcomes as indicated by our cohort, all of whom sat independently and are without permanent ventilation. However, our study demonstrates ongoing disability in most children with two SMN2 copies despite early monotherapy and emphasizes the need for additional research, including earlier monotherapy, initial combination therapy, prenatal treatment, and non-SMN modifying treatments.

Indexed as

Muscular Atrophy, SpinalSurvival of Motor Neuron 2 ProteinAzo CompoundsBiological ProductsCohort StudiesFemaleHumansInfantInfant, NewbornMaleOligonucleotidesPyrimidinesRecombinant Fusion ProteinsRetrospective StudiesSpinal Muscular Atrophies of ChildhoodTreatment OutcomeAzo CompoundsBiological ProductsnusinersenOligonucleotidesPyrimidinesRecombinant Fusion ProteinsRisdiplamSMN2 protein, humanSurvival of Motor Neuron 2 ProteinZolgensmaCHOP INTENDnewborn screeningnusinersenonasemnogene abeparvovecspinal muscular atrophy

Identifiers

PMID39370660
PMCPMC11560615

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.