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

NCT ID: NCT06663358

Last Updated: 2025-11-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-11-06

Study Completion Date

2029-11-30

Brief Summary

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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.

Detailed Description

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Conditions

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Fabry Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Cardiac Cohort

Patients with Fabry-related cardiac disease

Pegunigalsidase-alfa

Intervention Type DRUG

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

Naïve Cohort

Patients naïve to prior Fabry disease treatment

Pegunigalsidase-alfa

Intervention Type DRUG

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

Long-Term Cohort

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

Pegunigalsidase-alfa

Intervention Type DRUG

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

Interventions

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Pegunigalsidase-alfa

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

Intervention Type DRUG

Other Intervention Names

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Elfabrio®

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Chiesi Farmaceutici S.p.A.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status RECRUITING

Emory University School of Medicine

Atlanta, Georgia, United States

Site Status RECRUITING

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

Chicago, Illinois, United States

Site Status RECRUITING

University of Iowa Hospitals and Clinics

Iowa City, Iowa, United States

Site Status RECRUITING

Infusion Associates

Grand Rapids, Michigan, United States

Site Status RECRUITING

Lysosomal & Rare Disorder Research & Treatment Center (LRDRTC)

Fairfax, Virginia, United States

Site Status RECRUITING

General Hospital Slovenj Gradec

Slovenj Gradec, , Slovenia

Site Status RECRUITING

University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital

Edgbaston, Birmingham, United Kingdom

Site Status RECRUITING

Salford Royal

Salford, Greater Manchester, United Kingdom

Site Status RECRUITING

The Royal Free Hospital

London, , United Kingdom

Site Status RECRUITING

Countries

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United States Slovenia United Kingdom

Central Contacts

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Medical Information Chiesi

Role: CONTACT

(888) 661-9260

Facility Contacts

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Eric Wallace, MD

Role: primary

+1 205-975-2935

William Wilcox, MD

Role: primary

404-778-8518

Carlos Prada, MD

Role: primary

+1 312-227-3724

John Bernat

Role: primary

319-356-2007

Michael Mawby, MD

Role: primary

Ozlem Goker-Alpan

Role: primary

Bojan Vujkovac

Role: primary

386 (0)28823708

Tarekegn G Hiwot, MD

Role: primary

+441213716983

Ana Jovanovic, MD

Role: primary

+441612064365

Derralynn Hughes, MD

Role: primary

+442074726588 ext. 22496

Other Identifiers

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CLI-06657AA1-10

Identifier Type: -

Identifier Source: org_study_id

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