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

NCT06663358 | Recruiting FDA Drug

• 1 other identifier: CLI-06657AA1-10
• Study Type: observational
• Target: 100
• Locations: 3 countries
• Sites: 10

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

Outcome Measures

Primary Outcomes (5)

• Estimated Glomerular Filtration Rate (eGFR)

  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).

  4 years

• Plasma Globotriaosylsphingosine (LysoGb3) Concentration

  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.

  4 years

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

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

  4 years

• High Sensitivity Troponin (hs-cTnT)

  Change in levels of hs-cTnT over time

  4 years

• Safety Assessments

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

  4 years

Study Arms (3)

Cardiac Cohort

Patients with Fabry-related cardiac disease

Drug: Pegunigalsidase-alfa

Naïve Cohort

Patients naïve to prior Fabry disease treatment

Drug: Pegunigalsidase-alfa

Long-Term Cohort

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

Drug: Pegunigalsidase-alfa

Interventions

Pegunigalsidase-alfa DRUG

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

Also known as: Elfabrio®

Cardiac Cohort; Long-Term Cohort; Naïve Cohort

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The eligible population for this study includes participants who have a genetically confirmed diagnosis of Fabry disease and are being treated or plan to initiate treatment with pegunigalsidase alfa (Elfabrio®). Participants will be required to meet inclusion, not meet exclusion criteria and sign informed consent to be enrolled in the study.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Chiesi Farmaceutici S.p.A.: lead

Study Sites (10)

University of Alabama at Birmingham

Birmingham, Alabama, 35294, United States

RECRUITING

Emory University School of Medicine

Atlanta, Georgia, 30322, United States

RECRUITING

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

Chicago, Illinois, 60611, United States

RECRUITING

University of Iowa Hospitals and Clinics

Iowa City, Iowa, 52242, United States

RECRUITING

Infusion Associates

Grand Rapids, Michigan, 49525, United States

RECRUITING

Lysosomal & Rare Disorder Research & Treatment Center (LRDRTC)

Fairfax, Virginia, 22030, United States

RECRUITING

General Hospital Slovenj Gradec

Slovenj Gradec, 2380, Slovenia

RECRUITING

University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital

Edgbaston, Birmingham, B152TH, United Kingdom

RECRUITING

Salford Royal

Salford, Greater Manchester, M6 8HD, United Kingdom

RECRUITING

The Royal Free Hospital

London, NW3 2QG, United Kingdom

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Central Study Contacts

Medical Information Chiesi

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 23, 2024
• First Posted: October 29, 2024
• Study Start: November 6, 2024
• Primary Completion (Estimated): November 1, 2029
• Study Completion (Estimated): November 1, 2029
• Last Updated: November 14, 2025

Record last verified: 2024-11

Locations

US (6); GB (3); SL (1)