Type: Prospective, open-label, single center study Duration: 6 months with an optional 12-month extension phase Participants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment naïve or on enzyme replacement therapy (ERT). They will be treated with high-dose Ambroxol (mean 35mg/kg bodyweight). Location: The Children's Hospital, Lahore, Pakistan.
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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
12
High-dose Ambroxol will be administered orally at a mean dose of 35 mg/kg bodyweight daily. Participants will receive treatment for 6 months, with an optional 12-month extension. The drug may be given with or without concurrent enzyme replacement therapy (ERT).
The Children's Hospital
Lahore, Pakistan
Safety and Tolerability of High-Dose Ambroxol
Incidence and Severity of Treatment-Emergent Adverse Events
Time frame: 6 months (with optional assessment at 12-month extension)
Assess the efficacy of high-dose (mean 35mg/kg bodyweight) Ambroxol by at least 20% improvement in at least 50% of the patients measured with: assessment and Rating of Ataxia (SARA) scale for patients with ataxia.
50% of Participants Achieving ≥20% Improvement in SARA Score
Time frame: 6 months (with optional assessment at 12-month extension)
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