ArticleJournal of medical genetics2020
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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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.
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Who cites it
35 citing papers in PubMed, 58 citations in OpenAlex.
- A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration.Molecular genetics & genomic medicine · 2025Trial
- Modest improvement of metabolic and behavioral deficits with long-term ambroxol treatment in a Pink1Acta pharmacologica Sinica · 2026Article
- Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.Frontiers in neuroscience · 2026Article
- Product Development of High-Dose Ambroxol HCl Capsules for an n-of-1 Clinical Trial Involving Dutch Patients with Gaucher Disease Type 3.Pharmaceutics · 2025Article
- Review
- Effect of bronchoalveolar lavage combined with high-dose ambroxol hydrochloride on severe pneumonia with respiratory failure.American journal of translational research · 2025Article
- Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.Frontiers in neurology · 2025Article
- High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson's disease.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Development of orphan drugs for rare diseases.Clinical and experimental pediatrics · 2024Article
- Article
- Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Development of quantitative high-throughput screening assays to identify, validate, and optimize small-molecule stabilizers of misfolded β-glucocerebrosidase with therapeutic potential for Gaucher disease and Parkinson's disease.bioRxiv : the preprint server for biology · 2024Article
- Dependence of human cell survival and proliferation on the CASP3 prodomain.Cell death discovery · 2024Article
- Review
- Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.Frontiers in pharmacology · 2024Review
- Association Between Ambroxol at the Usual Dose and the Risk of Parkinson's Disease in Chronic Lung Disease.Journal of clinical neurology (Seoul, Korea) · 2023Article
- Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.Diagnostics (Basel, Switzerland) · 2023Article
- Use of Ambroxol as Therapy for Gaucher Disease.JAMA network open · 2023Article
- Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.Brain : a journal of neurology · 2023Article
- The ANeED study - ambroxol in new and early dementia with Lewy bodies (DLB): protocol for a phase IIa multicentre, randomised, double-blinded and placebo-controlled trial.Frontiers in aging neuroscience · 2023Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAmbroxol (ABX) has been suggested as an augmentative pharmacological agent for neuronopathic Gaucher disease (nGD). This study assessed the long-term safety and efficacy of combined therapy with high-dose ABX and enzyme replacement therapy (ERT) in nGD.
methodsABX+ERT therapy was administered for 4.5 years in four patients with nGD. ABX was initiated at a dose of 1.5 mg/kg/day, and the dose was escalated up to 27 mg/kg/day. The target plasma level was 10 µmol/L or less. The changes in glucocerebrosidase activity, biochemical, safety and neurocognitive findings were assessed.
resultsEnhanced residual GCcase activity was observed in all patients, as evidenced in both in vitro and in vivo studies. During the first 2 years of study with ABX (up to 21 mg/kg/day), mean seizure frequencies and neurocognitive function worsened. After ABX dosage was increased up to 27 mg/kg/day of ABX, its trough plasma concentration was 3.2-8.8 µmol/L. Drug-to-drug interaction, especially with antiepileptic drug significantly affected the pharmacokinetic parameters of ABX. Importantly, at 27 mg/kg/day of ABX, the seizure frequencies markedly decreased from the baseline, and the neurocognitive function was improved. In addition, Lyso-Gb1, a biomarker for the severity and progression of GD, was normalised in all patients. High-dose ABX was well-tolerated with no severe adverse events.
conclusionsLong-term treatment with high-dose ABX+ERT was safe and might help to arrest the progression of the neurological manifestations in GD.
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