Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy

0005-18-SZMC

Ambroxol hydrochloride, an over-the-counter antitussive available in many markets , was identified as an interesting pharmacological chaperone. In addition to a mucolytic action, ambroxol has antioxidant and anti-inflammatory properties. Importantly, ambroxol therapy was found safe when given to pregnant women for prevention of neonatal respiratory distress syndrome . Thus, ambroxol, an oral available drug on the market, may be a safe option for GD patients with potential disease-specific efficacy and should be expanded into a clinical trial using higher doses and placebo-controlled design. The investigators propose to start with a phase II study for patients with type 1 GD and suboptimal response to ERT. In addition the investigators plan to open an international registry of patients with GD currently receiving ambroxol (off study).

2019-03-01

2022-11-30

2022-12-30

Completed

Early phase I

40

Inclusion Criteria: \*Adult patients ≥ 18 years with type 1 GD and suboptimal response to ERT defined as one or more than one of the following: platelet count \< 100 x 103/mm3 bone mineral density \< -2 T score Lyso-GB1 \> 200 ng/ml. \*No change in dose or preparation of ERT in the last 12 months (Except for Naive patients) Exclusion Criteria: * Patients with comorbidity that may impact on the primary and/or secondary endpoint. * Pregnant women will be excluded from the study. * Inability to cooperate with the study procedure * Hypersensitivity or any other contraindication listed in the local labeling of ambroxol * Refusal of patients to participate in the study.

{'studyType': 'INTERVENTIONAL', 'phases': ['PHASE2'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'interventionModelDescription': 'The aim of this single arm, phase II study is to evaluate the efficacy and safety of adding ambroxol to patients with type 1 GD and suboptimal response to ERT.\n\nHYPOTHESIS The addition of ambroxol will improve the disease related symptoms and disease impact of patients with GD with suboptimal response to ERT.', 'primaryPurpose': 'TREATMENT', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 40, 'type': 'ACTUAL'}}

2023-02-14