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

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.

Study Overview

• Status: Terminated
• Conditions: Gaucher Disease, Type 3
• Intervention / Treatment: Drug: Ambroxol

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.

• Study Type: Interventional
• Enrollment (Actual): 12
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Pakistan
  • Lahore, Pakistan
    • The Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Pediatric patients aged 3 to 18 years
• Genetically confirmed Type III Gaucher Disease (GD3)
• Treatment naïve or receiving enzyme replacement therapy (ERT)
• SARA score ≥ 8
• Sexually active females must agree to use contraception
• All participants must not be pregnant or breastfeeding

Exclusion Criteria:

• Life-threatening visceral disease (related or unrelated to Gaucher Disease)
• Blood transfusion dependency
• Clinically significant cardiovascular, gastrointestinal, pulmonary, neurologic, endocrine, or psychiatric conditions
• Serious swallowing difficulties
• Renal insufficiency (eGFR < 30 mL/min/1.73 m²)
• Recent chaperone therapy or investigational treatment within the last 6 months
• Pregnancy or lactation
• History of cancer, drug or alcohol abuse, major organ transplant, or inability to adhere to study requirements

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: High-Dose Ambroxol; All participants will receive high-dose Ambroxol orally at a mean dose of 35 mg/kg bodyweight daily for 6 months, with an optional 12-month extension. The drug may be administered with or without enzyme replacement therapy (ERT).	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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety and Tolerability of High-Dose Ambroxol	Incidence and Severity of Treatment-Emergent Adverse Events	6 months (with optional assessment at 12-month extension)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	6 months (with optional assessment at 12-month extension)

Collaborators and Investigators

• Sponsor: Agyany Pharma LTD
• Investigators: Principal Investigator: Huma Arshad Cheema, Prof., The Children's Hospital, Lahore, Pakistan

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2025
• Primary Completion (Actual): March 30, 2026
• Study Completion (Actual): March 30, 2026

Study Registration Dates

• First Submitted: November 21, 2025
• First Submitted That Met QC Criteria: December 2, 2025
• First Posted (Actual): December 16, 2025

Study Record Updates

• Last Update Posted (Actual): April 3, 2026
• Last Update Submitted That Met QC Criteria: March 30, 2026
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Gaucher Disease; Myoclonus; Ataxia; Neurological manifestations; Ambroxol; Lysosomal storage disorder; GD3; Type III Gaucher Disease; Pharmacologic chaperone
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Dyskinesias; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Signs and Symptoms; Neurologic Manifestations; Ataxia; Myoclonus; Gaucher Disease; Lysosomal Storage Diseases; Organic Chemicals; Aniline Compounds; Amines; Bromhexine; Cyclohexylamines; Ambroxol
• Other Study ID Numbers: AGP3

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No