Observational study of Elfabrio® in patients with Fabry disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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®.

Why it matters

Who can join: the full rules

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 it's running

• 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

Study contacts

• Study coordinator: Medical Information Chiesi
• Email: us.medical@chiesi.com
• Phone: (888) 661-9260

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Quality of life for people 65+ with Fabry disease, treated or untreated

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• Agalsidase alfa for heart inflammation in Fabry disease measured by PET‑CMR

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.