{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T21:44:54Z","timestamp":1792878294013,"version":"4.5.0"},"reference-count":26,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T00:00:00Z","timestamp":1724803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ARM"],"abstract":"<jats:p>Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemnogene abeparvovec; Zolgensma) on respiratory function in SMA-1 patients ventilated via tracheostomy pre-gene therapy. A prospective cohort study included 22 patients. Patients were weaned off ventilation for at least 8 h daily by optimizing ventilator settings and duration, using cough augmentation, managing excessive airway secretions, enhancing nutrition, screening for respiratory bacterial colonization, and treating infections. Gene therapy was administered at a median age of 26 (Q1: 18, Q3: 43) months with a mean follow-up period of 7.64 (SD: 6.50) months. Gene therapy was safe and effective in resolving paradoxical breathing, improving cough ability, reducing airway secretions, and enhancing CHOP-INTEND scores. The clinical assessment and management implemented pre-gene therapy were effective in safely weaning patients for at least 8 h off ventilation daily. Gene therapy at a late age was safe and effective over the short-term period; however, long-term follow-up is recommended. In conjunction with gene therapy, high-quality clinical care is beneficial and should be paired with gene therapy.<\/jats:p>","DOI":"10.3390\/arm92050032","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T03:57:06Z","timestamp":1724817426000},"page":"338-347","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study"],"prefix":"10.3390","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1415-898X","authenticated-orcid":false,"given":"Mohammad Ala\u2019","family":"Alajjuri","sequence":"first","affiliation":[{"name":"College of Medicine, University of Sharjah, Sharjah, United Arab Emirates"},{"name":"Dubai Health, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania","family":"Abusamra","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology, Mediclinic City Hospital, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9235-2470","authenticated-orcid":false,"given":"Vivek","family":"Mundada","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Aster DM Healthcare, Medcare Women and Children Hospital, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omendra","family":"Narayan","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Sharjah, Sharjah, United Arab Emirates"},{"name":"Department of Pediatric Pulmonology, American Hospital, Dubai, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.24864","article-title":"Emerging therapies and challenges in spinal muscular atrophy","volume":"81","author":"Farrar","year":"2017","journal-title":"Ann. 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