Observational study of Elfabrio® in patients with Fabry disease

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

This study is testing how safe and effective Elfabrio® is for people with Fabry disease who are currently using or planning to use this treatment.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Chiesi Farmaceutici S.p.A. (Industry-sponsored)
• Locations: 10 sites (Birmingham, Alabama and 9 other locations)
• Trial ID: NCT06663358 on ClinicalTrials.gov

What this trial studies

This observational study aims to assess the safety and effectiveness of pegunigalsidase alfa (Elfabrio®) in patients diagnosed with Fabry disease. It will involve both retrospective and prospective data collection from multiple centers across different countries, focusing on participants who are currently receiving or planning to receive this treatment. The study will monitor patient outcomes and safety in routine clinical care settings, providing valuable insights into the real-world application of Elfabrio®.

Who should consider this trial

Good fit: Ideal candidates for this study are adults over 18 years old with a genetically confirmed diagnosis of Fabry disease who are either currently taking or planning to take Elfabrio®.

Not a fit: Patients who do not have a confirmed diagnosis of Fabry disease or those who are contraindicated for cardiac magnetic resonance imaging will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide critical data on the effectiveness and safety of Elfabrio® for managing Fabry disease, potentially improving treatment protocols.

How similar studies have performed: While this study is observational and builds on existing knowledge, similar studies have shown promising results in evaluating treatments for Fabry disease, indicating a potential for success.

Eligibility criteria

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

Where this trial is running

Birmingham, Alabama and 9 other locations

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

Study contacts

• Study coordinator: Medical Information Chiesi

Conditions Fabry Disease