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CompletedNCT07285369Updated Aug 24, 2026

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

An interventional study of Ambroxol in Gaucher Disease, Type 3, sponsored by Agyany Pharma LTD. Completed at 1 site in Pakistan. Open to participants aged 3 Years to 18 Years. Per ClinicalTrials.gov, last updated 2026-08-24.

Sponsored by Agyany Pharma LTD · Not applicable, Interventional, and Treatment

Phase
Not applicable
Study type
Interventional
Enrollment
12
Allocation
Not applicable
Ages
3 Years to 18 Years
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Gaucher Disease, Type 3

Keywords

  • Type III Gaucher Disease
  • Gaucher Disease
  • GD3
  • Ambroxol
  • Pharmacologic chaperone
  • Ataxia
  • Myoclonus
  • Neurological manifestations
  • Lysosomal storage disorder
03

Who can participate

Ages eligible
3 Years to 18 Years
Sexes eligible
All
Accepts healthy volunteers
No

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

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
04

Study design

Phase
Not applicable
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
12 participants (actual)

Study arms

  • 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

Interventions

  • DrugAmbroxol

    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).

05

What researchers measure

Primary outcomes

  1. 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)

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.

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

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

06

Study locations

1 site
  • The Children's Hospital
    Lahore, Pakistan
07

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

08

Registry details

Key details

Study ID
NCT07285369
Lead sponsor
Agyany Pharma LTD
Responsible party
Sponsor
First posted
Dec 16, 2025
Start date
Mar 1, 2025
Primary completion
Mar 30, 2026
Completion
Mar 30, 2026
Last update
Aug 24, 2026

Study contacts

Huma Arshad Cheema, Prof.
principal investigator · The Children's Hospital, Lahore, Pakistan

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.

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