Recruiting

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

Sponsor:

Chiesi Farmaceutici S.p.A.

Code:

NCT06663358

Conditions

Fabry Disease

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

Interventions

Pegunigalsidase-alfa

Study Details

Brief 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.

Conditions

Fabry Disease

Study ID

NCT06663358

Start date

Nov 6, 2024

Status verified date

Nov, 2024

Completion date

Nov, 2029

Anticipated

Primary completion date

Nov, 2029

Anticipated

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

Cardiac Cohort

Patients with Fabry-related cardiac disease

Naïve Cohort

Patients naïve to prior Fabry disease treatment

Long-Term Cohort

Patients previously participating in the pegunigalsidase alfa open label extension study and transitioning to routine care

Interventions

Pegunigalsidase-alfa

Administered via intravenous (IV) infusion under conditions of routine clinical care

Primary outcome measure

Estimated Glomerular Filtration Rate (eGFR) [ Time Frame: 4 years ]
Plasma Globotriaosylsphingosine (LysoGb3) Concentration [ Time Frame: 4 years ]
Left Ventricular Mass Index (LVMI; g/m2) [ Time Frame: 4 years ]
High Sensitivity Troponin (hs-cTnT) [ Time Frame: 4 years ]
Safety Assessments [ Time Frame: 4 years ]

Central Contacts and Locations

Central contacts

Medical Information Chiesi

(888) 661-9260 us.medical@chiesi.com

Locations

University of Alabama at Birmingham

Recruiting

Birmingham, Alabama, United States, 35294

Contacts

Eric Wallace, MD

+1 205-975-2935 elwallace@uabmc.edu

Emory University School of Medicine

Recruiting

Atlanta, Georgia, United States, 30322

Contacts

William Wilcox, MD

404-778-8518 william.wilcox@emory.edu

Northwestern University - Feinberg School of Medicine - Ann & Robert H. Lurie Children's Hospital of Chicago

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Carlos Prada, MD

+1 312-227-3724 cprada@luriechildrens.org

University of Iowa Hospitals and Clinics

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

John Bernat

319-356-2007

Infusion Associates

Recruiting

Grand Rapids, Michigan, United States, 49525

Lysosomal & Rare Disorder Research & Treatment Center (LRDRTC)

Recruiting

Fairfax, Virginia, United States, 22030

More Information

Sponsor

Chiesi Farmaceutici S.p.A.

Last update posted

Nov 14, 2025

Last verified

Nov, 2024

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Chiesi Farmaceutici S.p.A. on 2025-11-14.