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Completed

NCT Number: NCT07285369

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

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.

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Key information

Conditions

Gaucher Disease, Type 3 Ataxia Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyskinesias Gaucher Disease Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Myoclonus Nervous System Diseases Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Sphingolipidoses

Age range

3 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

The Children's Hospital

Lahore, Pakistan

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Ambroxol

Drug

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).

Primary outcomes

  1. Safety and Tolerability of High-Dose Ambroxol

    Time frame: 6 months (with optional assessment at 12-month extension)

    Incidence and Severity of Treatment-Emergent Adverse Events

Secondary outcomes

  1. 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.

    Time frame: 6 months (with optional assessment at 12-month extension)

    50% of Participants Achieving ≥20% Improvement in SARA Score

Sponsors and collaborators

Lead sponsor

Agyany Pharma LTD

Industry

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Dec 16, 2025
Registry last updated
Aug 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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