Fabry DiseaseMODERNNCT06663358
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
An observational study of Fabry Disease, run by Chiesi Farmaceutici S.p.A. at 10 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Pegunigalsidase-alfa
- Type of treatment
- Injection or infusion
- How many people
- 100 participants
- Where
- 10 sitesin 3 countries
- Study dates
- 6 Nov 2024to Nov 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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:
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- 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®).
Who cannot join
- 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.
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- 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
Trial locations and contacts
10 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 3 countries
United States6 sites, 6 recruiting
- Recruiting
Emory University School of Medicine
Atlanta, Georgia, 30322
William Wilcox, MD, 404-778-8518, william.wilcox@emory.edu
- Recruiting
University of Alabama at Birmingham
Birmingham, Alabama, 35294
Eric Wallace, MD, +1 205-975-2935, elwallace@uabmc.edu
- Recruiting
Northwestern University - Feinberg School of Medicine - Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Carlos Prada, MD, +1 312-227-3724, cprada@luriechildrens.org
- Recruiting
Lysosomal & Rare Disorder Research & Treatment Center (LRDRTC)
Fairfax, Virginia, 22030
Ozlem Goker-Alpan
- Recruiting
Infusion Associates
Grand Rapids, Michigan, 49525
Michael Mawby, MD
- Recruiting
University of Iowa Hospitals and Clinics
Iowa City, Iowa, 52242
John Bernat, 319-356-2007
United Kingdom3 sites, 3 recruiting
- Recruiting
University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital
Edgbaston, Birmingham, B152TH
Tarekegn G Hiwot, MD, +441213716983, tarekegn.hiwot@uhb.nhs.uk
- Recruiting
The Royal Free Hospital
London, NW3 2QG
Derralynn Hughes, MD, +442074726588 ext. 22496, derralynnhughes@nhs.net
- Recruiting
Salford Royal
Salford, Greater Manchester, M6 8HD
Ana Jovanovic, MD, +441612064365, ana.jovanovic@nca.nhs.uk
Slovenia1 site, 1 recruiting
- Recruiting
General Hospital Slovenj Gradec
Slovenj Gradec, 2380
Bojan Vujkovac, 386 (0)28823708, bojan.vujkovac@guest.arnes.si
About this study
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
- Being tested
- Pegunigalsidase-alfa
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pegunigalsidase-alfaDrug
Also called Elfabrio®
Administered via intravenous (IV) infusion under conditions of routine clinical care
| Study group | Role | What they receive |
|---|---|---|
| Cardiac Cohort | Patients with Fabry-related cardiac disease Receives: Drug: Pegunigalsidase-alfa | |
| Naïve Cohort | Patients naïve to prior Fabry disease treatment Receives: Drug: Pegunigalsidase-alfa | |
| Long-Term Cohort | Patients previously participating in the pegunigalsidase alfa open label extension study and transitioning to routine care Receives: Drug: Pegunigalsidase-alfa |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Measured: 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.
Measured: 4 years
High Sensitivity Troponin (hs-cTnT)
Change in levels of hs-cTnT over time
Measured: 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.
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2024
- Study start6 Nov 2024
- Primary completionNov 2029 (estimated)
- Study completionNov 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Chiesi Farmaceutici S.p.A.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chiesi Farmaceutici S.p.A.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06663358
- Sponsor's protocol ID
- CLI-06657AA1-10
- Acronym
- MODERN
- Status last verified
- Nov 2024
- First submitted
- 23 Sep 2024
- Last updated
- 14 Nov 2025
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
- ClinicalTrials.gov ID
- NCT06663358
- Acronym / sponsor ID
- MODERN / CLI-06657AA1-10
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Chiesi Farmaceutici S.p.A.Industry (pharma, biotech, devices)
- Study start
- 6 Nov 2024 (actual)
- Primary completion
- Nov 2029 (estimated)
- Study completion
- Nov 2029 (estimated)
- First posted
- 29 Oct 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Cardiac Cohort | – | Drug: Pegunigalsidase-alfaPatients with Fabry-related cardiac disease |
| Naïve Cohort | – | Drug: Pegunigalsidase-alfaPatients naïve to prior Fabry disease treatment |
| Long-Term Cohort | – | Drug: Pegunigalsidase-alfaPatients previously participating in the pegunigalsidase alfa open label extension study and transitioning to routine care |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (18 listed)
- 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).
Key exclusion criteria (16 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pegunigalsidase-alfaAlso: Elfabrio®Administered via intravenous (IV) infusion under conditions of routine clinical care | Drug | Cardiac Cohort, Long-Term Cohort, Naïve Cohort |
Primary outcome
Estimated Glomerular Filtration Rate (eGFR)
Time frame: 4 years
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).
Plasma Globotriaosylsphingosine (LysoGb3) Concentration
Time frame: 4 years
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.
Left Ventricular Mass Index (LVMI; g/m2)
Time frame: 4 years
Change in LVMI over time as assessed by cardiac MRI. Based on LVM indexed by height and/or body surface area.
High Sensitivity Troponin (hs-cTnT)
Time frame: 4 years
Change in levels of hs-cTnT over time
Safety Assessments
Time frame: 4 years
The endpoints will include occurrence of SAEs, infusion-related reactions (IRRs), drug-related adverse events, and proportion of participants with ADAs over time.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Nov 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
10 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Chiesi Farmaceutici S.p.A. at 10 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 18 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 14 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, United Kingdom, Slovenia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Medical Information Chiesi ((888) 661-9260, us.medical@chiesi.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Estimated Glomerular Filtration Rate (eGFR) (time frame: 4 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Nov 2025.