NCT07285369

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

Ambroxol in Type III Gaucher Disease (GD3): A Prospective 6-Month Single-Center Open-Label Study With an Optional 12-month Extension Phase

• Status: Terminated
• Phase: N/A
• Study type: Interventional
• Enrollment: 12 (actual)
• Sponsor: Agyany Pharma LTD · Industry
• Sex: All
• Age: 3 Years – 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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.

Conditions

• Gaucher Disease, Type 3

Interventions

Type	Name	Description
DRUG	Ambroxol	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).

Timeline

• Start date: 2025-03-01
• Primary completion: 2026-03-30
• Completion: 2026-03-30
• First posted: 2025-12-16
• Last updated: 2026-04-03

Locations

1 site across 1 country: Pakistan