Evaluation of thesafety and efficacy of ambroxol in Gaucher disease caused by carrying the c.1448T>C mutation (p.Leu483Pro) and other rare variants of the GBA gene, based on clinical evaluation and results of genetic and metabolomic analyses

Phase 1

• Conditions: Gaucher disease; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2021-006224-40-PL
• Lead Sponsor: Instytut ,,Pomnik-Centrum Zdrowia Dziecka

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-05-13
• Last Update Posted: 8 July 2024

Recruitment & Eligibility

• Status: A
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

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

Exclusion Criteria

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

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified