ClinicalTrials.gov record NCT06663358
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a multi-country, observational (non-interventional) study that collects both past and future routine-care data on people with genetically confirmed Fabry disease who are taking or plan to take pegunigalsidase alfa (Elfabrio®). The study uses three cohorts (Cardiac, Naïve, Long-Term) and follows clinical measures and safety over time. Key outcomes include kidney function, a Fabry biomarker, heart imaging and blood markers, and safety events measured up to four years. The study does not assign treatments; participants receive pegunigalsidase alfa as part of their usual care.
What it is studying. The study is measuring real-world safety and effectiveness of pegunigalsidase alfa (Elfabrio®) in people with Fabry disease. It tracks kidney function (estimated glomerular filtration rate, eGFR), levels of the Fabry biomarker lysoGb3, heart structure by cardiac MRI (left ventricular mass index, LVMI) and a blood marker of heart injury (high-sensitivity troponin). It also records safety outcomes including serious adverse events, infusion-related reactions, drug-related adverse events, and the presence of anti-drug antibodies (ADAs) over a four-year timeframe.
What the researchers hope to learn. To gather real-world evidence on the safety and effectiveness of pegunigalsidase alfa (Elfabrio®) in people with Fabry disease. To monitor changes in kidney function, lysoGb3 biomarker levels, heart structure and cardiac injury markers, and to document adverse events and anti-drug antibodies over time.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Drug
- Pegunigalsidase-alfa
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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 description and what participation involves
The registry record has no detailed description beyond the summary above.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is an observational hybrid study: past medical records may be reviewed and participants will be followed prospectively (outcomes tracked over up to four years). Participants are receiving, or plan to receive, pegunigalsidase alfa by IV infusion as part of routine clinical care and will have clinical tests recorded over time, including kidney function (eGFR), blood biomarkers such as plasma lysoGb3 and troponin, and cardiac MRI measurements when done as standard care (cMRI with gadolinium for those able to have it). The study will collect safety information (serious adverse events and infusion reactions) and participants will complete electronic patient-reported outcome (ePRO) forms.
How the study is structured. An observational cohort study that is non-interventional and hybrid (retrospective and prospective). Participants continue to receive pegunigalsidase alfa under routine clinical care; the study collects past medical data and follows participants forward in time. There are three cohorts (Cardiac, Naïve, Long-Term) defined by clinical history and prior study participation. The protocol plans regular, pre-specified assessments (including annual time points mentioned in the outcomes) and may include cardiac MRI if done as part of standard care.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Slovenia, United Kingdom, United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Fabry disease
Important dates
- Study start
- Nov 6, 2024
- Primary completion
- November 2029 (estimated)
- Study completion
- November 2029 (estimated)
- Target enrollment
- 100 participants (estimated)
- Last updated on registry
- Nov 14, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Chiesi Farmaceutici S.p.A.
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Medical Information Chiesi 📞 (888) 661-9260 ✉ us.medical@chiesi.com
Participating sites (10)
- University of Alabama at BirminghamRecruiting
Birmingham, Alabama, 35294 · United States
- Eric Wallace, MD · +1 205-975-2935 · elwallace@uabmc.edu
- Emory University School of MedicineRecruiting
Atlanta, Georgia, 30322 · United States
- William Wilcox, MD · 404-778-8518 · william.wilcox@emory.edu
- Northwestern University - Feinberg School of Medicine - Ann & Robert H. Lurie Children's Hospital of ChicagoRecruiting
Chicago, Illinois, 60611 · United States
- Carlos Prada, MD · +1 312-227-3724 · cprada@luriechildrens.org
- University of Iowa Hospitals and ClinicsRecruiting
Iowa City, Iowa, 52242 · United States
- John Bernat · 319-356-2007
- Infusion AssociatesRecruiting
Grand Rapids, Michigan, 49525 · United States
- Michael Mawby, MD
- Lysosomal & Rare Disorder Research & Treatment Center (LRDRTC)Recruiting
Fairfax, Virginia, 22030 · United States
- Ozlem Goker-Alpan
- General Hospital Slovenj GradecRecruiting
Slovenj Gradec, 2380 · Slovenia
- Bojan Vujkovac · 386 (0)28823708 · bojan.vujkovac@guest.arnes.si
- University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth HospitalRecruiting
Edgbaston, Birmingham, B152TH · United Kingdom
- Tarekegn G Hiwot, MD · +441213716983 · tarekegn.hiwot@uhb.nhs.uk
- Salford RoyalRecruiting
Salford, Greater Manchester, M6 8HD · United Kingdom
- Ana Jovanovic, MD · +441612064365 · ana.jovanovic@nca.nhs.uk
- The Royal Free HospitalRecruiting
London, NW3 2QG · United Kingdom
- Derralynn Hughes, MD · +442074726588 ext. 22496 · derralynnhughes@nhs.net
Terms used on this page · explanations by MedicalUpdates.ai
- contraindications
- A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
- magnetic resonance imaging
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- Informed consent form
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- Cohort
- A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
- Estimated glomerular filtration rate
- A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
- enrolment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- open label
- No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
- interventional study
- A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
- investigational drug
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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