None listed
Conditions
Interventions
Drug : 1. For Gaucher’s disease patients undergoing Part A and Part B being treated with enzyme treatment (imiglucerase and Abcertin inj.) which is the standard of care for the disease, enzyme treat
Sponsors
Asan Medical Center
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Male and female subjects aged between 2 and 75 years old 2) Patients diagnosed with Gaucher disease by genetic testing or enzyme activity assay (Patients who meet any of the following criteria are eligible to be included in this study.) A. New patients receiving Ambroxol for the first time (only applicable to Part A) B. Existing patients who participated Study GD-AMBX-02 or patients who completed Part A of this study (only applicable to Part B) 3) Patients who voluntarily consented to study participation and signed the written consent
Exclusion criteria
Exclusion criteria: 1) Patients with severe renal impairment (eGFR < 30 mL/min/1.73 m2) 2) Patients with severe hepatic impairment (Child-Pugh class C) 3) Patients with genetic predisposition to lactose intolerance, galactose intolerance, Lapp lactase deficiency, or glucose-galactose malabsorption 4) Patients with known active hepatitis, HIV positive, or other uncontrolled infectious diseases 5) Patients with hypersensitivities to the study drug or any of its components. (However, patients who can receive the investigational drug through a gastrointestinal tube may be eligible for enrollment in this clinical trial.) 6) Pregnant women, breastfeeding women, and women and men of childbearing potential who do not intend to remain abstinent or use appropriate contraceptive methods (oral contraceptive, hormone implant, intrauterine device, combination of spermicide and diaphragm [condom]) 7) Patients who participated in any clinical trials other than GD-AMBX-02 within 90 days from treatment with the investigational product 8) Patients who are unable to participate in the study for other reasons, according to the investigator
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Adverse events (AEs) (Renal dysfunction, hepatic disease, digestive disorder, allergy and anaphylactoid reaction, Stevens-Johnson syndrome, Lyell syndrome, purulent rhinitis, etc.);Laboratory tests (hematology, blood chemistry, blood coagulation, and urinalysis);Vital signs (blood pressure, pulse, body temperature) and body measurements (body mass index);Electrocardiogram (ECG) and chest X-ray | — |
Secondary
| Measure | Time frame |
|---|---|
| Primary efficacy endpoint_Change in modified severity scoring tool (mSST) score;Secondary efficacy endpoints_Change in residual enzyme activity of GBA before treatment with enzyme replacement therapy;Secondary efficacy endpoints_Change in residual enzyme activity of GBA after treatment with enzyme replacement therapy;Secondary efficacy endpoints_Improvement rate of ocular motility disorders;Secondary efficacy endpoints_Change in angle of esotropia;Secondary efficacy endpoints_Change in biomarkers of Gaucher disease (acid phosphatase, angiotensin converting enzyme, chitotriosidase, and glucosylsphingosine (GlcSph Lyso-Gb1));Secondary efficacy endpoints_Change in hemoglobin concentrations;Secondary efficacy endpoints_Change in platelet levels;Secondary efficacy endpoints_Change in bone mineral density (BMD);Secondary efficacy endpoints_Change in intelligence test scores;Secondary efficacy endpoints_Change in the frequency of seizures;Secondary efficacy endpoints_Change in the size of liver and spleen;Secondary efficacy endpoints_Change in the score of K-MBI;Exploratory endpoints_Transfer ratio of ambroxol (CSF to serum ambroxol concentration ratio);Exploratory endpoints_Pharmacokinetic parameter: serum Cmax, Tmax, t1/2, CL, AUCtau, etc.;Exploratory endpoints_Change in latency and threshold of brainstem auditory evoked response (BAER);Exploratory endpoints_Change in N-acetyl acid/creatinine (NAA/Cr) and choline/creatinine (Cho/Cr) on brain magnetic resonance spectroscopy (MRS) | — |
Countries
Korea, Republic of
Contacts
Public ContactBeom Hee Lee
Asan Medical Center
Outcome results
None listed