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

NCT07285369 | Active Not Recruiting

• 1 other identifier: AGP3
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Gaucher Disease, Type 3

Keywords

Type III Gaucher Disease; Gaucher Disease; GD3; Ambroxol; Pharmacologic chaperone; Ataxia; Myoclonus; Neurological manifestations; Lysosomal storage disorder

Outcome Measures

Primary Outcomes (1)

• 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 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.

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

Study Arms (1)

High-Dose Ambroxol

EXPERIMENTAL

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

Interventions

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).

High-Dose Ambroxol

Eligibility Criteria

• Age: 3 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Agyany Pharma LTD: lead

Study Sites (1)

The Children's Hospital

Lahore, Pakistan

Location

MeSH Terms

Conditions

Gaucher Disease; Ataxia; Myoclonus; Neurologic Manifestations; Lysosomal Storage Diseases

Interventions

Ambroxol

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Dyskinesias; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Bromhexine; Aniline Compounds; Amines; Organic Chemicals; Cyclohexylamines

Study Officials

• Huma Arshad Cheema, Prof.

  The Children's Hospital, Lahore, Pakistan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 21, 2025
• First Posted: December 16, 2025
• Study Start: March 1, 2025
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): January 1, 2027
• Last Updated: December 16, 2025

Record last verified: 2025-11

Locations

PA (1)