High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)

This single-center, prospective, open-label study investigates the safety, tolerability, and efficacy of high-dose Ambroxol in pediatric patients with genetically confirmed Type III Gaucher Disease (GD3). The study will enroll 12 participants aged 3 to 18 years, either treatment naïve or receiving enzyme replacement therapy (ERT). Participants will receive high-dose Ambroxol orally (mean 35 mg/kg bodyweight) over a 6-month period, with an optional 12-month extension. Primary Objective: Evaluate the safety and tolerability of high-dose Ambroxol administered with or without ERT. Secondary Objective: Assess efficacy based on at least a 20% improvement in at least 50% of participants using the following measures: * Assessment and Rating of Ataxia (SARA) for patients with ataxia * Unified Myoclonus Rating Scale (UMRS) for patients with myoclonic epilepsy * Lyso-Gb1 levels in peripheral blood after at least 6 months of treatment Intervention: High-dose Ambroxol administered orally (mean 35 mg/kg bodyweight) Study Location: The Children's Hospital, Lahore, Pakistan This study aims to provide preliminary safety and efficacy data on Ambroxol as a therapeutic option for pediatric patients with GD3, potentially informing future larger-scale clinical trials.