Fabry DiseasePhase 2/3FLYNCT06328608
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Phase 2/3 study testing PRX-102 1 mg/kg every two weeks in people with Fabry Disease, run by Chiesi Farmaceutici S.p.A. at 12 sites in 6 countries.
Trial summary
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease. Read more about this study
- Who is it for?
- Ages 2 to 17 years
- Conditions the study is for
- Fabry Disease
- What is being tested?
- PRX-102 1 mg/kg every two weeks
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 22 participants
- Where
- 12 sitesin 6 countries
- Study dates
- 29 Jul 2025to Apr 2031
- Phase
- Phase 2/3
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 2 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Participants with the provision of informed consent from their legal guardians
- Boys and girls aged 2 to 7 years (Cohort A), 8 to 12 years (Cohort B), or 13 to <18 years (Cohort C).
- Confirmed diagnosis of Fabry disease
- Presence of at least one of the following characteristic features of Fabry disease: neuropathic pain, cornea verticillata, and/or clustered angiokeratoma.
- History of Fabry pain: Fabry crises OR chronic pain.
- Clinical condition that, in the investigator's opinion, requires ERT treatment.
Who cannot join
- All Subjects:
- Estimated glomerular filtration rate (eGFR) at screening < 80 mL/min/1.73 m2.
- History of type I hypersensitivity reactions (anaphylactic or anaphylactoid life-threatening reaction) to other ERT treatment for Fabry disease or any component of the study drug.
- Initiation of treatment with an angiotensin-converting enzyme inhibitor (ACEi) or angiotensin II receptor blocker (ARB) or a dose change in ongoing treatment in the four weeks before screening.
- Urine protein to creatinine ratio (UPCR) > 0.5 g/g (0.5 mg/mg or 500 mg/g) if not treated with an ACE inhibitor or ARB.
- Currently taking another investigational drug for any condition.
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- History of acute kidney injury in the 12 months before screening, including specific kidney diseases (e.g., acute interstitial nephritis, acute glomerular and vasculitic renal diseases); non-specific conditions (e.g., ischaemia, toxic injury); or extrarenal pathology (e.g., prerenal azotaemia, acute postrenal obstructive nephropathy).
- History of renal dialysis or kidney transplantation.
- History of or current malignancy requiring treatment.
- Severe cardiomyopathy or significant unstable cardiac disease within six months before screening.
- A positive test for Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) within three months before screening.
- Presence of any medical, emotional, behavioural, or psychological condition that, in the Investigator's judgement, could interfere with the subject's compliance with the requirements of the study.
- Additional Exclusion Criteria for Subjects Enrolled in Stage I:
- Female
- Non-classic form of Fabry disease
- Receipt of treatment for Fabry disease within six months before screening
- Positive for anti-PRX-102 antibodies at screening
- Additional Exclusion Criteria for Subjects in Stage II (i.e., non-treatment naïve males or females):
- Unwilling to discontinue current ERT treatment for Fabry disease before baseline.
- Females: Pregnant or lactating, or of childbearing potential with a fertile male partner and unwilling to use a highly reliable method of contraception from the informed consent signature until 30 days after the last infusion.
Trial locations and contacts
12 sites in 6 countries. Contact the study team or a site near you to ask about taking part.
12 sites in 6 countries
United States6 sites, 6 recruiting
- Recruiting
Emory Genetics Clinical Trials Center
Atlanta, Georgia, 30322
William Wilcox, 404-727-2931, william.wilcox@emory.edu
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Robert Hopkin, 513-636-4760, rob.hopkin@cchmc.org
- Recruiting
Lysosomal and Rare Disorders Research and Treatment Center Inc
Fairfax, Virginia, 22030
Ozlem Goker-Alpan, 240-643-6003, ogoker-alpan@ldrtc.org
- Recruiting
University of Iowa
Iowa City, Iowa, 52242
John Bernat, 319-356-2675, john-bernat@uiowa.edu
- Recruiting
Phoenix Children's
Phoenix, Arizona, 85016
Jasmine Knoll, 602-933-4363, jknoll@phoenixchildrens.com
- Recruiting
University of Utah
Salt Lake City, Utah, 84108
Julie M Porter, 801-587-3605, Julie.Porter@hsc.utah.edu
France2 sites, 2 recruiting
- Recruiting
Centre Hospitalier Universitaire (CHU) de Bordeaux - Groupe Hospitalier Pellegrin
Bordeaux, 33076
Didier Lacombe, +33 5 57 82 03 63, didier.lacombe@chu-bordeaux.fr
- Recruiting
Hopital Arnaud de Villeneuve
Montpellier
Marc Fila, +33 4 67 33 91 70, m-fila@chu-montpellier.fr
Austria1 site, 1 recruiting
- Recruiting
UK für Kinder- und Jugendheilkunde der PMU Salzburg
Salzburg
Florian Lagler, 676 8997 80760, f.lagler@crcs.at
Norway1 site, 1 recruiting
- Recruiting
Haukeland Universitetssjukehus
Bergen, 5021
Camilla Tøndel, +47 55975720, camilla.tondel@helse-bergen.no
Spain1 site, 1 recruiting
- Recruiting
Hospital Clinico Universitario De Santiago De Compostela
Santiago de Compostela
Maria Luz-Couce, +34 981950162, maria.luz.couce.pico@sergas.es
United Kingdom1 site, 1 recruiting
- Not yet recruiting
Great Ormond Street Hospital for Children NHS Foundation Trust
London
Anupam Chakrapani, 0207 4059200 ext. 0665, anupam.chakrapani@gosh.nhs.uk
About this study
Official title: Multi-centre, Open-label Trial to Assess the saFety, Pharmacodynamics, Efficacy and Pharmacokinetics of pegunigaLsidase Alfa in Patients From 2 Years to Less Than 18 Years of Age With Confirmed FabrY Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
Read the detailed description
This study aims to learn how safe pegunigalsidase alfa (PRX-102 for short) is and how it works at treating Fabry disease in children and adolescents.
PRX-102 is an enzyme replacement therapy (ERT), meaning it acts like a natural enzyme. PRX-102 is given through a needle placed in a vein (intravenous infusion) every two weeks.
The main questions this study aims to answer are:
- Which is the safest and most effective dose to be given to children and adolescents.
- Which effects PRX-102 has on signs and symptoms of Fabry disease (e.g. renal and cardiac function, pain, gastrointestinal symptoms) 20 to 22 boys and girls with Fabry disease between the ages of 2 and 17 will be part of this study. There will be three age cohorts, with children aged 2 to 7 years included (enrolled) in Cohort A, children aged 8 to 12 years in Cohort B, and adolescents aged 13 to less than 18 years in Cohort C.
The study is divided into three parts, or "stages":
- A dose-finding stage (Stage I). In this stage, researchers will determine the dose for children.
- A confirmatory stage (Stage II). In this part, researchers will learn about the safety and efficacy of PRX-102.
- and an optional extension stage (Stage III) will continue until the study drug becomes commercially available or the Sponsor chooses to end this study.
PRX-102 will be given at the study visits, which will occur at least every two weeks. Tests for verifying the study drug's safety and efficacy and determining the dose will also be conducted at different time points throughout the study (not all tests will be done at all visits). These tests may include a review of any health problems and medications the participants have had or taken since the last visit; a physical examination; ECG; ultrasound of the heart; questionnaires that evaluate the nature and severity of Fabry disease symptoms, quality of life and pain; a collection of blood and urine samples for standard safety tests, to analyse the severity of Fabry disease and to see how the drug is behaving and how long it remains active in the body (this involves taking multiple blood samples over several days with the first sample taken just before the start of the PRX-102 infusion and the last one taken just before the start of the next PRX-102 at the next visit).
- Conditions
- Fabry Disease
- Being tested
- PRX-102 1 mg/kg every two weeks
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PRX-102 1 mg/kg every two weeksDrug
Also called pegunigalsidase alfa, Recombinant human alpha galactosidase-A
Drug: PRX-102 1 mg/kg every two weeks
| Study group | Role | What they receive |
|---|---|---|
| Single Arm - Pegunigalsidase alfa (PRX-102) | Experimental | For Cohort C, PXR-102 administered every two weeks at 1.0 mg/kg is believed to be the minimum effective dose.
For Cohorts A and B, the starting dose will be 1.0 mg/kg every two weeks but it may be adjusted on the outcomes of Stage I, with the support of the Data Safety Monitoring Board. Receives: Drug: PRX-102 1 mg/kg every two weeks |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of Treatment Emergent Adverse Events (TEAEs)
Measured: 12 Months
Incidence of Infusion Related Reactions (IRRs)
Measured: 12 Months
Incidence of Injection site reactions (ISRs)
Measured: 12 Months
Change in Tanner stage
Tanner Staging of Sexual Development will be used to assess sexual development (i.e. breast development (B1 to B5) and pubic hair development (Ph-1 to Ph-5) in females and pubic hair and genetical development (G1-G5) in males.
Measured: Baseline and 12 Months
Change from baseline of 12-lead ECG quantitative parameters: Mean Heart Rate
Measured: Baseline and 12 Months
Change from baseline of 12-lead ECG quantitative parameters: PR Interval
Measured: Baseline and 12 Months
Change from baseline of 12-lead ECG quantitative parameters: QRS Duration
Measured: Baseline and 12 Months
Change from baseline of 12-lead ECG quantitative parameters: QT Interval
Measured: Baseline and 12 Months
Change from baseline of 12-lead ECG quantitative parameters: QTc Interval
Measured: Baseline and 12 Months
Change from baseline of 12-lead ECG quantitative parameters: ST Segment
Measured: Baseline and 12 Months
Incidence of treatment-emergent Anti-Drug Antibodies (ADAs)
Measured: Baseline and 12 Months
Incidence of premedication use at each visit and change of infusion premedications from baseline
Measured: Baseline and 12 Months
Pharmacokinetics: Time to maximum plasma concentration (tmax)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetic : Area under the plasma concentration-time curve from time 0 to time t (AUC0 t)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetics: Area under the curve from time 0 to 2 weeks (AUC0-2wk)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetics: Area under the curve from time 0 to infinity (AUC0-∞)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetics: Terminal half-life (t1/2)
Measured: Baseline, week 2, week 4, week 12, week 26 and week 52]
Pharmacokinetics: Area under the curve over a dosing interval (AUCτ)
Measured: Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetics: Observed drug concentration at the end of the dosing interval (Cτ)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetics: Clearance (Cl)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Pharmacokinetics: Volume of distribution (Vz)
Measured: Stage I - Baseline, week 2, week 4, week 12, week 26 and week 52; Stage II -Baseline, week 12, week 26 and week 52]
Change in eGFR
Measured: Baseline and 12 Months
Change in annualized eGFR slope
Measured: Baseline and 12 Months
Change in urine albumin levels
Measured: Baseline and 12 Months
Change in urine protein levels
Measured: Baseline and 12 Months
Change from baseline in LVMi as assessed by echocardiogram
Echocardiogram parameters include left ventricular mass index (LVMi)
Measured: Baseline and 12 Months
Change from baseline in LVMi as assessed by echocardiogram
Echocardiogram parameters include ejection fraction
Measured: Baseline and 12 Months
Change from baseline in LVMi as assessed by echocardiogram
Echocardiogram parameters include, fractional shortening
Measured: Baseline and 12 Months
Change from baseline in LVMi as assessed by echocardiogram
Echocardiogram parameters include left ventricular mass
Measured: Baseline and 12 Months
Change from baseline in LVMi as assessed by echocardiogram
Echocardiogram parameters include valve abnormalities and thickness.
Measured: Baseline and 12 Months
Incidence of any cardiac arrythmias as assessed by Holter ECG
Measured: Baseline and 12 Months
Change in plasma levels of cardiac biomarkers
High-sensitivity cardiac troponin T (hs-cTnT) and N- terminal pro brain natriuretic peptide (NT-Pro BNP) will be assessed.
Measured: Baseline and 12 Months
Change in plasma level of Gb3 concentration (nM)
Measured: Baseline and 12 Months
Change in plasma level of lyso-Gb3 (nM)
Measured: Baseline and 12 Months
Change in urine level of lyso-Gb3 (nM)
Measured: Baseline and 12 Months
Incidence of change from baseline in the number of different pain medications
Measured: Baseline and 12 Months
Incidence of Fabry Clinical Events
FCEs are classified into four categories: renal, cardiac, cerebrovascular and death due to non-cardiac reasons
Measured: 12 Months
Change from baseline of Mainz Severity Score Index (MSSI) scores
Domains (general, neurological, cardiovascular, renal dysfunction)
Measured: Baseline and 12 Months
Change from baseline of PedsQL-GI (or GSRS for subjects who reaches 18 yrs of age) scores
Measured: Baseline and 12 Months
Change from baseline of FPHPQ scores
Measured: Baseline and 12 Months
Change from baseline of PedsQL-PPQ (or BPI-SF for subjects who reaches 18 yrs of age) scores
Measured: Baseline and 12 Months
Change from baseline of EQ-5D-Y (or EQ-5D-5L for subjects who reaches 18 yrs of age) scores
Measured: Baseline and 12 Months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Mar 2024
- Study start29 Jul 2025
- Primary completionOct 2028 (estimated)
- Study completionApr 2031 (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
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 22 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chiesi Farmaceutici S.p.A.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- ICON plc
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06328608
- Sponsor's protocol ID
- CLI-06657AA1-01
- Other IDs
- 2022-503128-29
- Acronym
- FLY
- Status last verified
- Mar 2026
- First submitted
- 10 Aug 2023
- Last updated
- 10 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No