Low dose corticosteroids adjacent to enzyme replacement therapy or chaperon therapy in patients with cardiac manifestation of Fabry disease

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Medical University Of Lodz

Participant type

Patients

Age range

18-64 years, 65+ years

Gender

Male and Female

Therapeutic area

Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16], Diseases [C] - Cardiovascular Diseases [C14]

Trial duration

5 Mar 2026 → ongoing

Decision date (initial)

2025-10-17

Transition trial

No

Low-intervention

Yes

Rare-disease indication

Yes

Vulnerable population

No

Funding sources

Agencja Badań Medycznych · Polish Medical Research Agency

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Therapy, Efficacy, Safety

The main objective of the study is to evaluate whether the use of prednisone - as an adjunctive treatment to standard therapy (ERT or CHT) - can effectively improve cardiac function by reducing myocardial inflammation, considered one of the key pathological mechanisms in Fabry cardiomyopathy.

Conditions and MedDRA coding

Fabry disease

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 6

1. Giving informed consent
2. Age at least 18 years on the day of the screening visit
3. Ongoing treatment for Fabry disease: Enzyme replacement therapy with agalsidase alfa or agalsidase beta, or Chaperone therapy with migalastat
4. 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).
5. High-sensitivity troponin T level above >14 ng/l
6. Contraceptive readiness (for women)

Exclusion criteria 17

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

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 1

1. 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.

Secondary endpoints 12

1. Combined clinical outcome (death + cardiac arrest + unplanned cardiac hospitalization)
2. Quality of life measured by SF-36v.2; EQ-5D and KCCQ
3. Fabry disease progression assessed by dedicated Mainz Severity Score Index (MSSI), DS3 and FASTEX scores
4. Assessment of functional capacity using cardiopulmonary exercise testing (CPET), 6-minute walk test (6MWT) and NYHA classification
5. Electrocardiographic abnormalities (brady- and tachyarrhythmias, autonomic tension)
6. Echocardiographic assessment (morphological and functional evaluation of the heart)
7. Cardiac MRI abnormalities (left ventricular mass, inflammation and fibrosis)
8. Biochemical biomarkers of the heart (CK-MB, NT-pro-BNP)
9. Substrate levels of FD-specific biomarkers ( Gb3 in urine and Lyso-Gb3 in serum)
10. Antidrug antibody (ADA) levels in patients on ERT
11. Levels of inflammatory cytokines (CRP, IL-1beta, IL-6, IL-8, IL-10, IL-12, TNF alpha, SAA)
12. Assessment of renal function with glomerular filtration rate (eGFR), albumin/creatinine ratio (ACR), FGF2 and VEGFA

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 1

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Medical University Of Lodz

Sponsor organisation

Medical University Of Lodz

Address

Al. Tadeusza Kosciuszki 4

City

Lodz

Postcode

90-419

Country

Poland

Scientific contact point

Organisation

Medical University Of Lodz

Contact name

Krzysztof Kaczmarek

Public contact point

Organisation

Medical University Of Lodz

Contact name

Krzysztof Kaczmarek

Locations

1 EU/EEA country · 2 investigational sites

By country

Investigational sites

Country notifications

Trial-start, recruitment-start, end and early-termination notifications submitted per Member State

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 17 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

3 submissions — initial application plus substantial / non-substantial modifications