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Two reviewers independently selected studies, extracted data and assessed risk of bias using design-specific tools. Substantial clinical and methodological heterogeneity precluded meta-analysis<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 149 records in the original searches, 137 were screened, 41 full texts were assessed and 20 clinical outcome reports were included. The additional Web of Science search retrieved 50 records and did not identify further clinical outcome reports. Evidence in GD consisted mainly of small, uncontrolled and sometimes overlapping reports. Biochemical and neurological improvements were described in selected patients, but outcome definitions and functional responses varied. In GBA1-PD, conclusions remain provisional because the AMBITIOUS results are available only as a non-peer-reviewed preprint and did not show disease modification. Evidence on the safety of chronic high-dose treatment is limited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Biomarker changes alone do not establish clinical efficacy. ABX remains an off-label, investigational treatment in GD and GBA1-PD, and no GBA1 genotype or functional assay currently defines a validated indication.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s13760-026-03202-w","type":"journal-article","created":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:46:15Z","timestamp":1790484375000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ambroxol in Gaucher disease and GBA1-related Parkinson disease: an updated systematic review"],"prefix":"10.1007","author":[{"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Jezela-Stanek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,27]]},"reference":[{"key":"3202_CR1","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1002\/jha2.852","volume":"5","author":"DA Abelleyra Lastoria","year":"2024","unstructured":"Abelleyra Lastoria DA, Grewal S, Hughes D (2024) The use of ambroxol for the treatment of Gaucher disease: a systematic review. 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This systematic review used data from previously published reports and did not involve new research with human participants or animals.","order":2,"name":"Ethics","label":"Ethics approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All three authors were investigators in the Polish 2026 GD cohort included in this review [\n                      \n                      ]. This intellectual involvement is disclosed. Data from that report were extracted and appraised using the same prespecified forms, design-specific criteria and interpretive thresholds as all other eligible reports; it was not assigned preferential evidentiary weight.","order":3,"name":"Ethics","label":"Author involvement in included evidence","group":{"name":"EthicsHeading","label":"Declarations"}}]}}