Outcomes of early‐treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study
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.
Authors
- Melissa Gibbons (ORCID: https://orcid.org/0000-0002-4555-9663)
- Bo Hoon Lee (ORCID: https://orcid.org/0000-0001-9646-4018)
- Karen Herbert
- Craig M. Zaidman (ORCID: https://orcid.org/0000-0002-1255-5877)
- Arpita Lakhotia (ORCID: https://orcid.org/0000-0003-2948-4531)
- John F. Brandsema (ORCID: https://orcid.org/0000-0001-5945-3280)
- Nancy L. Kuntz (ORCID: https://orcid.org/0000-0003-2253-5156)
- Rebecca Rehborg
- Mark Fisher (ORCID: https://orcid.org/0000-0001-9802-8826)
- Michelle A. Farrar (ORCID: https://orcid.org/0000-0002-4472-0902)
- Elizabeth Kichula
- Marcia V. Felker (ORCID: https://orcid.org/0000-0002-8287-024X)
- Amanda Rogers (ORCID: https://orcid.org/0000-0002-8320-9293)
- Hiba Farah
- Kiana King
- Natalie L. Goedeker (ORCID: https://orcid.org/0000-0003-3071-1703)
- Omer Abdul Hamid
- Matthew Harmelink (ORCID: https://orcid.org/0000-0001-7897-1251)
- Kapil Arya (ORCID: https://orcid.org/0000-0002-4526-2210)
- Julie Parsons (ORCID: https://orcid.org/0000-0003-3450-762X)
- Aravindhan Veerapaniyan
Institutions
- Northwestern University (US)
- Arkansas Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- University of Louisville (US)
- Medical College of Wisconsin (US)
- Washington University in St. Louis (US)
- UNSW Sydney (AU)
- Children's Hospital Colorado (US)
- Sydney Children's Hospital (AU)
- Sydney Children’s Hospitals Network (AU)
- Nemours Children's Clinic (US)
- Indiana University School of Medicine
- University of Rochester (US)
- Indiana University – Purdue University Indianapolis (US)
- University of Missouri–Kansas City (US)
- University of Arkansas for Medical Sciences (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2024-10-06
- DOI
- https://doi.org/10.1002/mus.28267
- Citations
- 10
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 4.38
Funders
- Eli Lilly and Company
- Pfizer
- Biogen
- Alexion Pharmaceuticals
- FibroGen
- Cure SMA
- Institute of Clinical and Translational Sciences
- CSL Behring
- PTC Therapeutics
- Cytokinetics
- AveXis
- Sarepta Therapeutics
- Audentes Therapeutics
- Astellas Pharma
- National Institutes of Health
- Genentech
- National Center for Advancing Translational Sciences