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

NCT ID: NCT07285369

Last Updated: 2025-12-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

12 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-03-01

Study Completion Date

2027-01-01

Brief Summary

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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

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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

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Gaucher Disease, Type 3

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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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).

Group Type EXPERIMENTAL

Ambroxol

Intervention Type 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).

Interventions

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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).

Intervention Type DRUG

Eligibility Criteria

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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
Minimum Eligible Age

3 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Agyany Pharma LTD

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Huma Arshad Cheema, Prof.

Role: PRINCIPAL_INVESTIGATOR

The Children's Hospital, Lahore, Pakistan

Locations

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The Children's Hospital

Lahore, , Pakistan

Site Status

Countries

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Pakistan

Other Identifiers

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AGP3

Identifier Type: -

Identifier Source: org_study_id