{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T00:49:06Z","timestamp":1793148546253,"version":"4.5.0"},"reference-count":92,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T00:00:00Z","timestamp":1707782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pharmacol."],"abstract":"<jats:p>Gaucher disease (GD) is mainly caused by glucocerebrosidase (GCase) enzyme deficiency due to genetic variations in the <jats:italic>GBA1<\/jats:italic> gene leading to the toxic accumulation of sphingolipids in various organs, which causes symptoms such as anemia, thrombocytopenia, hepatosplenomegaly, and neurological manifestations. GD is clinically classified into the non-neuronopathic type 1, and the acute and chronic neuronopathic forms, types 2 and 3, respectively. In addition to the current approved GD medications, the repurposing of Ambroxol (ABX) has emerged as a prospective enzyme enhancement therapy option showing its potential to enhance mutated GCase activity and reduce glucosylceramide accumulation in GD-affected tissues of different <jats:italic>GBA1<\/jats:italic> genotypes. The variability in response to ABX varies across different variants, highlighting the diversity in patients\u2019 therapeutic outcomes. Its oral availability and safety profile make it an attractive option, particularly for patients with neurological manifestations. Clinical trials are essential to explore further ABX\u2019s potential as a therapeutic medication for GD to encourage pharmaceutical companies\u2019 investment in its development. This review highlights the potential of ABX as a pharmacological chaperone therapy for GD and stresses the importance of addressing response variability in clinical studies to improve the management of this rare and complex disorder.<\/jats:p>","DOI":"10.3389\/fphar.2024.1335058","type":"journal-article","created":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T04:17:05Z","timestamp":1707797825000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":18,"title":["Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies"],"prefix":"10.3389","volume":"15","author":[{"given":"Feda E.","family":"Mohamed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Al-Jasmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,2,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/8904_2012_182","article-title":"Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates: LSD in UAE","volume":"10","author":"Al-Jasmi","year":"2013","journal-title":"JIMD Rep."},{"key":"B2","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.nbd.2015.06.008","article-title":"Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson\u2019s disease cells","volume":"82","author":"Ambrosi","year":"2015","journal-title":"Neurobiol. 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