EUCTR2021-006224-40-PLActive, not recruitingPhase 1
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 sites40 target enrollmentStarted: May 13, 2022Last updated:
Conditions
Drugs
Trial Snapshot
- Phase
- Phase 1
- Status
- Active, not recruiting
- Sponsor
- Enrollment
- 40
Study Overview
Brief Summary
No summary available.
Study Design
- Study Type
- Interventional
Eligibility Criteria
- Sex
- All
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
Investigators
Similar Trials
Active, not recruiting
Phase 1
Effectiveness of ambroxol for treating children and adults with Gaucher disease type 3EUCTR2021-002550-82-NLAmsterdam UMC4
Not yet recruiting
Not Applicable
Ambroxol in Gaucher disease 3: n-of-1 seriesNL-OMON20818MetaKids, Vriendenloterij4
Not yet recruiting
Phase 3
Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 seriesGaucher disease: a lysosomal storage diseasemetabolic disorder10027424NL-OMON51936Academisch Medisch Centrum6
Completed
Phase 3
A Study of the Efficacy and Safety of Bardoxolone Methyl in Patients with Connective Tissue Disease-Associated Pulmonary Arterial HypertensioConnective Tissue Disease-Associated Pulmonary Arterial HypertensionJPRN-UMIN000025158Reata Pharmaceuticals, Inc.202
Active, not recruiting
Phase 1
A STUDY OF THE EFFICACY AND SAFETY OF BARDOXOLONE METHYL IN PATIENTS WITH CONNECTIVE TISSUE DISEASE-ASSOCIATED PULMONARY ARTERIAL HYPERTENSIOConnective Tissue Disease-Associated Pulmonary Arterial Hypertension (WHO Group I CTD-PAH)EUCTR2016-000196-24-BEReata Pharmaceuticals, Inc.130