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Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease - PubMed

6 hours ago
  • #Gaucher Disease
  • #Neurological Symptoms
  • #Ambroxol Therapy
  • Ambroxol therapy was evaluated in 13 Polish patients with type 3 Gaucher disease, who were L444P homozygotes, over one year at a dose of 10 mg/kg/day.
  • The study found that ambroxol led to a reduction or complete resolution of selected neurological symptoms in several patients.
  • Biomarker improvements were observed, including decreased activity of chitotriosidase and concentration of glucosylsphingosine (Lyso-GL1).
  • Ambroxol showed beneficial effects on neurological symptoms in type 3 Gaucher disease patients already on stable enzyme replacement therapy (ERT).
  • The results support ambroxol's potential as an adjunctive treatment for neuronopathic forms of Gaucher disease, particularly due to its ability to cross the blood-brain barrier.