Evaluation of the safety and efficacy of ambroxol (ABX) use in Polish patients with Gaucher disease, presenting neuronopathic type (GD type III, GD3) resulting from homozygous c.1448T>C mutation (p.Leu483Pro) in the GBA gene and GD types caused by other GBA variants, on the basis of the clinical picture and multi-omic analyses - AxGD

Instytut ,,Pomnik-Centrum Zdrowia Dziecka0 个研究点目标入组 40 人开始时间: 2022年5月13日最近更新: 2024年7月8日

适应症

试验速览

暂无简介。

•1. Diagnosis of Gaucher's disease - GD1-PD (presence of at least 2 clinical features characteristic of early signs of Parkinson's disease: resting tremor, hypomimia, dysarthria, salivation, freezing, ataxia/ gait disturbance, sleep disturbance, cognitive impairment, speech impairment, pyramidal disorder) or GD3 - confirmed by molecular test result
•2. Age 10-65 years
•3. Signing the informed consent to participate in the study by the patient or, in the case of a minor patient, by parents or legal guardians
•4. Stable over the last year hematological parameters (peripheral blood counts, INR), biochemical parameters (transaminases, creatinine) and biomarkers (chitotriosidase, lyso-GL1)
•5. Fixed dose of enzyme therapy for at least 1 year and unchanged during study period
•6. The use of ABX in the 12 months prior to the study enrollment (group I)
•7. Failure to use ABX at all before entering the study (group II)
•Are the trial subjects under 18? yes
•Number of subjects for this age range: 4
•F.1.2 Adults (18-64 years) yes
•F.1.2.1 Number of subjects for this age range 36
•F.1.3 Elderly (>=65 years) no
•F.1.3.1 Number of subjects for this age range

•1. Hypersensitivity to the active substance or any of the auxiliary substances
•2. Genetically determined states of auxiliary substance intolerance (fructose intolerance, glucose-galactose malabsorption syndrome, sucrase-isomaltase deficiency).
•3. Renal impairment (eGFR <90 ml / min)
•4. Liver Injury: ALT or AST 2.5 times of ULN
•5. Peptic ulcer disease of the stomach or duodenum
•6. Pregnancy, breast-feeding or the refusal to use effective methods of contraception or sexual continence during the study in women of childbearing age
•7. Use of another study drug within 6 months prior to study enrollment or participation in other studies at the time of enrollment
•8. Swallowing disorders or inability to take the study drug orally

发起方

Instytut ,,Pomnik-Centrum Zdrowia Dziecka