Gaucher Disease, Type 3
Conditions
Keywords
Type III Gaucher Disease, Gaucher Disease, GD3, Ambroxol, Pharmacologic chaperone, Ataxia, Myoclonus, Neurological manifestations, Lysosomal storage disorder
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.
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.
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).
Sponsors
Agyany Pharma LTD
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to 18 Years
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
* 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety and Tolerability of High-Dose Ambroxol | 6 months (with optional assessment at 12-month extension) | Incidence and Severity of Treatment-Emergent Adverse Events |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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) | 50% of Participants Achieving ≥20% Improvement in SARA Score |
Countries
Pakistan
Contacts
PRINCIPAL_INVESTIGATORHuma Arshad Cheema, Prof.
The Children's Hospital, Lahore, Pakistan
Outcome results
None listed