Gaucher Disease, Type 3NCT07285369
High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
A study testing Ambroxol in people with Gaucher Disease, Type 3, run by Agyany Pharma LTD at 1 site in Pakistan.
Trial 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). Read more about this study
- Who is it for?
- Ages 3 to 18 years
- Conditions the study is for
- Gaucher Disease, Type 3
- What is being tested?
- Ambroxol
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 1 sitePakistan
- Study dates
- 1 Mar 2025to 30 Mar 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
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.
- Conditions
- Gaucher Disease, Type 3
- Being tested
- Ambroxol
- Keywords
- Type III Gaucher Disease, Gaucher Disease, GD3, Ambroxol, Pharmacologic chaperone, Ataxia, Myoclonus, Neurological manifestations, Lysosomal storage disorder
- Medical subject headings
- Gaucher Disease, Ataxia, Myoclonus, Neurologic Manifestations, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AmbroxolDrug
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).
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Drug: Ambroxol |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety and Tolerability of High-Dose Ambroxol
Incidence and Severity of Treatment-Emergent Adverse Events
Measured: 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
Measured: 6 months (with optional assessment at 12-month extension)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Dec 2025
- Study start1 Mar 2025
- Primary completion30 Mar 2026
- Study completion30 Mar 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher Disease, Type 3Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Agyany Pharma LTD
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Huma Arshad Cheema, Prof., Principal investigator, The Children's Hospital, Lahore, Pakistan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07285369
- Sponsor's protocol ID
- AGP3
- Status last verified
- Aug 2026
- First submitted
- 21 Nov 2025
- Last updated
- 24 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 24 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ambroxol in Type III Gaucher Disease (GD3): A Prospective 6-Month Single-Center Open-Label Study With an Optional 12-month Extension Phase
- ClinicalTrials.gov ID
- NCT07285369
- Acronym / sponsor ID
- AGP3
- Conditions
- Gaucher Disease, Type 3
- Keywords
- Type III Gaucher Disease, Gaucher Disease, GD3, Ambroxol, Pharmacologic chaperone, Ataxia, Myoclonus, Neurological manifestations
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Agyany Pharma LTDIndustry (pharma, biotech, devices)
- Study start
- 1 Mar 2025 (actual)
- Primary completion
- 30 Mar 2026 (actual)
- Study completion
- 30 Mar 2026 (actual)
- First posted
- 16 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| High-Dose Ambroxol | Experimental | Drug: AmbroxolAll 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). |
Who may qualify
- Ages
- 3 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (8 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AmbroxolHigh-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). | Drug | High-Dose Ambroxol |
Primary outcome
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
1 secondary outcome
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)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Aug 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Huma Arshad Cheema, Prof. principal investigator
The Children's Hospital, Lahore, Pakistan
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Ambroxol in people with Gaucher Disease, Type 3, run by Agyany Pharma LTD at 1 site in Pakistan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Pakistan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety and Tolerability of High-Dose Ambroxol (time frame: 6 months (with optional assessment at 12-month extension)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Aug 2026.