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Observational Study of Elfabrio® in Fabry Disease

This study is looking at the safety and how well pegunigalsidase-alfa (Elfabrio®) works for people with Fabry disease. Researchers want to see if Elfabrio® helps improve kidney function (estimated glomerular filtration rate or eGFR), reduce a specific marker in the blood called plasma globotriaosylsphingosine (LysoGb3), and affect heart size (left ventricular mass index or LVMI) over 4 years. You can join if you are an adult (18 years or older) with a confirmed diagnosis of Fabry disease and are either already taking or planning to take Elfabrio®. The study aims to enroll 100 participants.

Study design
This is an observational study, meaning researchers will watch how Elfabrio® is used in routine care. It is a hybrid study, collecting both past and future information from participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 4 years to measure changes in kidney function, blood markers, and heart size.

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NCT06663358

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

Recruiting
Not specifiedAges 18+Observational
Chiesi Farmaceutici S.p.A.
~100 participants
Updated 2025-11-14 on ClinicalTrials.gov
What's tested:Pegunigalsidase-alfa

At a glance

Recruiting sites
10 of 10 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Estimated Glomerular Filtration Rate (eGFR)
Measured over 4 years
+4 more outcomes measured

Conditions

Fabry Disease

Explore related trials

Fabry Disease

Where it's being run

10 sites across 10 states
Alabama1
Georgia1
Illinois1
Iowa1
Michigan1
Virginia1
Slovenia1
Birmingham1

Who to contact

Medical Information Chiesi
[email protected]
(888) 661-9260
Email the study team

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • Estimated Glomerular Filtration Rate (eGFR)4 years

    eGFR, calculated using the Chronic Kidney Disease - Epidemiology Collaboration (eGFRCKD-EPI) equation from study baseline and from pegunigalsidase alfa treatment start to end of follow-up and to pre-specified time points (annually).

  • Plasma Globotriaosylsphingosine (LysoGb3) Concentration4 years

    Levels of the Fabry disease biomarker plasma globotriaosylsphingosine (lyso-Gb3) over time, and change from study baseline and from pegunigalsidase alfa treatment start to end of follow-up.

  • Left Ventricular Mass Index (LVMI; g/m2)4 years

    Change in LVMI over time as assessed by cardiac MRI. Based on LVM indexed by height and/or body surface area.

  • High Sensitivity Troponin (hs-cTnT)4 years

    Change in levels of hs-cTnT over time

  • Safety Assessments4 years

    The endpoints will include occurrence of SAEs, infusion-related reactions (IRRs), drug-related adverse events, and proportion of participants with ADAs over time.