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Clinical Trials in the UK / NCT06663358
Recruiting Observational

A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients

NCT06663358 · tracked via the Priya Life Science UK tracker
Sponsor
Chiesi Farmaceutici S.p.A.
Phase
Observational
Started
2024-11-06
Last updated
2025-11-14

Condition(s) studied

Fabry Disease

Investigational drug(s) / intervention(s)

Pegunigalsidase-alfa

Pegunigalsidase-alfa: Administered via intravenous (IV) infusion under conditions of routine clinical care

Study summary

A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.

Eligibility

Sex
ALL
Min age
18 Years
Max age
Healthy volunteers
No
Inclusion Criteria: * Male or female aged \> 18 years of age at the time of consent. * Genetically confirmed diagnosis of Fabry disease. * Either taking or planning to take pegunigalsidase alfa as treatment for Fabry disease. * No contraindications for cardiac magnetic resonance imaging (cMRI) * Informed consent form (ICF) signed and dated indicating the individual has been informed of and agreed to all pertinent aspects of the study and is willing to comply with all study requirements, including completion of electronic patient reported outcomes (ePROs). * Cardiac Cohort: * Evidence of Fabry disease (FD)-related heart disease including one or more of the following: * Left ventricular hypertrophy (LVH) measured by left ventricular mass index (LVMI) (g/m2) elevation above age/sex specific reference ranges. * Posterior septum wall thickness (e.g., \>=13mm) not explained by other factors (e.g., hypertension) * Low native T1 mapping on cMRI. * Typical Fabry-like scar on cMRI * Participants can receive cardiac magnetic resonance imaging (cMRI) with gadolinium enhancement as part of their SoC. * Estimated glomerular filtration rate (eGFR) \>45 mL/min/1.73 m2, assessed within the prior 6 months. * Naïve Cohort: * Most recent eGFR\>45 mL/min/1.73 m2, assessed within prior 6 months. * Male participants should have abnormal elevation in plasma lysoGb3 as assessed within 6 months prior to enrolment. * Long-Term Cohort: * Participants previously enrolled in the open label study CLI-06657AA1-04 (Previously PB-102-F60) (using pegunigalsidase alfa at a dose of 1mg/kg every 2 weeks) who have initiated or plan to initiate commercial pegunigalsidase alfa (Elfabrio®). Exclusion Criteria: * Contraindication to magnetic resonance imaging (MRI) including known history of hypersensitivity to gadolinium contrast agent that is not managed by the use of premedication. * Pregnant at the time of enrolment. * Presence of any medical, emotional, behavioural, or psychological condition that, in the judgment of the physician, could interfere with the ability to participate in the study. * Active participation in any interventional study for Fabry disease * Treatment regimen at the time of enrolment in the study is different from the approved 1mg/kg every two weeks (note if regimen subsequently changes during the prospective part of the study, the participants can remain in the study) * Prior participation in a pegunigalsidase alfa trial using a dose of 2 mg/kg administered every 4 weeks. * Cardiac Cohort: * History of acute myocardial infarction or congestive heart failure with reduced left ventricular (LV) ejection fraction of less than 35%. * Cerebral vascular accident (CVA) in the prior 6 months. * Chronic liver cirrhosis. * FD-unrelated heart disease (e.g., scarring due to myocardial infarction, symptomatic occlusive coronary artery disease, moderate valvular heart disease not thought to be Fabry related). * The participant is or has been treated with any investigational drug for Fabry disease within 6 months of study start or investigational gene therapy for Fabry disease at any time point in the past. * Severe cardiac fibrosis defined as more than 3 segments that each have \>50% fibrosis upon late gadolinium enhancement cMRI at any prior cMRI. * Naïve Cohort: * Prior exposure to a FD therapy (Replagal®, Fabrazyme®, and Galafold®) at any time point. * Severe cardiac fibrosis defined as more than 3 segments that each have \>50% fibrosis upon late gadolinium enhancement cMRI on any prior cMRI

Primary outcome measure(s)

Trial sites (10)

FacilityCityRegionStatus
University of Alabama at Birmingham Birmingham Alabama Recruiting
Emory University School of Medicine Atlanta Georgia Recruiting
Northwestern University - Feinberg School of Medicine - Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois Recruiting
University of Iowa Hospitals and Clinics Iowa City Iowa Recruiting
Infusion Associates Grand Rapids Michigan Recruiting
Lysosomal & Rare Disorder Research & Treatment Center (LRDRTC) Fairfax Virginia Recruiting
General Hospital Slovenj Gradec Slovenj Gradec Slovenia Recruiting
University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Edgbaston Birmingham Recruiting
Salford Royal Salford Greater Manchester Recruiting
The Royal Free Hospital London United Kingdom Recruiting

More Chiesi Farmaceutici S.p.A. trials in the UK

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06663358 on ClinicalTrials.gov ↗ ← All trials in the UK