PREDNISONE for Fabry disease

Inclusion criteria

• {"criterion_text":"- Giving informed consent"}
• {"criterion_text":"- Age at least 18 years on the day of the screening visit"}
• {"criterion_text":"- Ongoing treatment for Fabry disease: Enzyme replacement therapy with agalsidase alfa or agalsidase beta, or Chaperone therapy with migalastat"}
• {"criterion_text":"- Cardiac involvement in Fabry disease (meeting at least one of the following criteria a-c): a. electrocardiographic abnormalities defined as: - short PR (less than 120 ms) or - long PR (200 ms or more) or - bradycardia (heart rate less than <60 beats per minute) or - chronotropic failure or - repolarization abnormalities. b. echocardiographic abnormalities defined as: - left ventricular hypertrophy (wall thickness of 12 mm or more), or - reduced global longitudinal strain (GLS<-16%), or - dilatation of the aortic annulus >22 mm/m2, or - thickening of the mitral and aortic valve leaflets (>5 mm and 2 mm, respectively) with at least mild valvular regurgitation. c. cardiac MRI abnormalities defined as: - left ventricular hypertrophy defined as LVMI>2SD above the mean based on age- and gender-specific reference ranges, or - papillary muscle hypertrophy, or - the presence of late gadolinium enhancement (LGE)."}
• {"criterion_text":"- High-sensitivity troponin T level above >14 ng/l"}
• {"criterion_text":"- Contraceptive readiness (for women)"}

Exclusion criteria

• {"criterion_text":"- Age < 18 years at the time of screening"}
• {"criterion_text":"- Concomitant treatment with variable-dose corticosteroids for other indications less than 3 months prior to study inclusion"}
• {"criterion_text":"- Hypersensitivity to any component of the test drug compound"}
• {"criterion_text":"- Diagnosis of mental illness"}
• {"criterion_text":"- Reluctance to adhere to a scheduled schedule of visits"}
• {"criterion_text":"- Pregnancy (for women)"}
• {"criterion_text":"- Lactation (for women)"}
• {"criterion_text":"- eGFR<30ml/m2/min"}
• {"criterion_text":"- Planned attenuated vaccine"}
• {"criterion_text":"- Diabetes"}
• {"criterion_text":"- Cataracts"}
• {"criterion_text":"- Peptic ulcer disease of the stomach and/or duodenum"}
• {"criterion_text":"- Episode of gastrointestinal bleeding within 12 months prior to starting treatment"}
• {"criterion_text":"- Inability to give informed consent to participate in the study"}
• {"criterion_text":"- Chronic and/or systemic fungal infection"}
• {"criterion_text":"- Patient not treated with enzyme replacement therapy or chaperone therapy"}
• {"criterion_text":"- Coexistence with autoimmune disease"}

Primary endpoints

• {"endpoint_text":"- Reduction in high-sensitivity troponin T (hsTnT) levels by 50% at the end of GCS therapy compared to levels at the visit before starting GCS.","definition_or_measurement_approach":"Change in hsTnT laboratory values: percent reduction (50%) at end of glucocorticosteroid (GCS) therapy compared with hsTnT measured at the visit immediately prior to starting GCS."}

Secondary endpoints

• {"endpoint_text":"- Combined clinical outcome (death + cardiac arrest + unplanned cardiac hospitalization)","definition_or_measurement_approach":"Composite clinical outcome composed of occurrence of death, cardiac arrest, or unplanned cardiac hospitalization as recorded during follow-up."}
• {"endpoint_text":"- Quality of life measured by SF-36v.2; EQ-5D and KCCQ","definition_or_measurement_approach":"Patient-reported outcome instruments: SF-36v2, EQ-5D, and Kansas City Cardiomyopathy Questionnaire (KCCQ) administered per schedule."}
• {"endpoint_text":"- Fabry disease progression assessed by dedicated Mainz Severity Score Index (MSSI), DS3 and FASTEX scores","definition_or_measurement_approach":"Disease progression assessed using validated scoring systems: MSSI, DS3 and FASTEX."}
• {"endpoint_text":"- Assessment of functional capacity using cardiopulmonary exercise testing (CPET), 6-minute walk test (6MWT) and NYHA classification","definition_or_measurement_approach":"Functional capacity measured by CPET parameters, 6MWT distance, and New York Heart Association (NYHA) functional class."}
• {"endpoint_text":"- Electrocardiographic abnormalities (brady- and tachyarrhythmias, autonomic tension)","definition_or_measurement_approach":"ECG monitoring for arrhythmias and autonomic parameters; occurrences and classifications recorded."}
• {"endpoint_text":"- Echocardiographic assessment (morphological and functional evaluation of the heart)","definition_or_measurement_approach":"Echocardiography parameters including wall thickness, LV function, GLS and other morphological/functional measures."}
• {"endpoint_text":"- Cardiac MRI abnormalities (left ventricular mass, inflammation and fibrosis)","definition_or_measurement_approach":"Cardiac MRI assessment of left ventricular mass, markers of inflammation and late gadolinium enhancement (fibrosis)."}
• {"endpoint_text":"- Biochemical biomarkers of the heart (CK-MB, NT-pro-BNP)","definition_or_measurement_approach":"Laboratory measurement of cardiac biomarkers CK-MB and NT-pro-BNP."}
• {"endpoint_text":"- Substrate levels of FD-specific biomarkers ( Gb3 in urine and Lyso-Gb3 in serum)","definition_or_measurement_approach":"Laboratory assays measuring Gb3 in urine and Lyso-Gb3 in serum."}
• {"endpoint_text":"- Antidrug antibody (ADA) levels in patients on ERT","definition_or_measurement_approach":"Serological measurement of anti-drug antibodies in patients receiving enzyme replacement therapy."}
• {"endpoint_text":"- Levels of inflammatory cytokines (CRP, IL-1beta, IL-6, IL-8, IL-10, IL-12, TNF alpha, SAA)","definition_or_measurement_approach":"Laboratory measurement of listed inflammatory cytokines and acute phase proteins."}
• {"endpoint_text":"- Assessment of renal function with glomerular filtration rate (eGFR), albumin/creatinine ratio (ACR), FGF2 and VEGFA","definition_or_measurement_approach":"Renal function measured by eGFR and ACR; additional biomarkers FGF2 and VEGFA measured in laboratory assays."}

Methods

• Recruitment arrangements document (K1) present (country: Poland) - local recruitment coordinated via participating hospital sites/clinics.
• Subject information materials distributed: poster (L2_Other subject information material - plakat).
• Study website information material (L2_Other subject information material - strona internetowa).
• Printed leaflets/ulotka for potential participants (L2_Other subject information material - ulotka).
• Social media information material (L2_Other subject information material - social media information).
• In-clinic recruitment at participating cardiology and electrophysiology departments (site-based recruitment).

Poland

Earliest CTIS Part Ii Submission Date

18-09-2025

Latest Decision Or Authorization Date

23-03-2026

Processing Time Days

186

Number Of Sites

2

Number Of Participants

40

Primary sponsor

Full Name

Medical University Of Lodz

Organisation Type

Educational Institution

Country Of Registered Address

Poland

Third parties

• {"country":"","full_name":"Agencja Badań Medycznych","duties_or_roles":"Source of monetary support","organisation_type":""}
• {"country":"","full_name":"Polish Medical Research Agency","duties_or_roles":"Source of monetary support","organisation_type":""}