Fabry DiseasePEGASONCT07109375
Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting
An observational study of Fabry Disease, run by Chiesi Italia at 7 sites in Italy.
Trial summary
PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world setting. 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
- 75 participants
- Where
- 7 sitesItaly
- Study dates
- 15 Jun 2026to Feb 2029
- Phase
- Observational
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: Adults patients who have a genetically confirmed diagnosis of Fabry disease and are being treated or plan to initiate treatment with pegunigalsidase alfa as per clinical practice.
Who may be able to join
- Male and female adults (≥ 18 years).
- Patients with a clinical diagnosis of Fabry disease confirmed by α-Gal A assay and detection of mutation in α-Gal A gene.
- Patients either taking or planning to take pegunigalsidase alfa as treatment for Fabry disease. The treatment decision must be made independently from participation in this study.
- Written informed consent to participate in the study and for the processing of personal data.
Who cannot join
- History of hypersensitivity reaction to pegunigalsidase alfa.
- 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.
- Female subjects who are pregnant or planning to become pregnant during the study.
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
Italy7 sites, 7 recruiting
- Not yet recruiting
AUSL Toscana Sud-Est - Ospedale San Donato
Arezzo
Maurizio Pieroni, MD
Maurizio Pieroni
- Recruiting
Azienda Ospedaliera Universitaria Consorziale Policlinico Di Bari
Bari
Gesualdo
Loreto Gesualdo
- Recruiting
Irccs Azienda Ospedaliero-Universitaria Di Bologna - Policlinico Di Sant'Orsola
Bologna
La Manna
Gaetano La Manna
- Not yet recruiting
A.O. Sant'Anna e San Sebastiano
Caserta
Paolo Calabrò
Paolo Calabrò
- Not yet recruiting
U.O.C. Nefrologia ASST Monza - Ospedale San Gerardo
Monza
Federico Pieruzzi
Federico Pieruzzi
- Not yet recruiting
AOU Federico II, Dipartimento di Nefrologia
Naples
Antonio Pisani, MD, +39 081 7464521
- Not yet recruiting
A.O.U. Policlinico "Giaccone"
Palermo
Antonino Tuttolomondo, MD
Antonino Tuttolomondo
About this study
Official title: Observational Prospective Cohort Study on Long-term Effective and Safe Use of Pegunigalsidase Alfa in Adult Fabry Patients Under "Real-world" Setting
PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world setting.
- Conditions
- Fabry Disease
- Being tested
- pegunigalsidase alfa
- Keywords
- Pegunigalsidase alfa, Fabry disease, Real-world, Alpha-galactosidase A, Lysosomal storage disorders
- Medical subject headings
- Fabry Disease, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
pegunigalsidase alfaDrug
Also called Elfabrio
Pegunigalsidase alfa is 2 mg/mL concentrate for solution and is administered via intravenous infusion every two weeks.
| Study group | Role | What they receive |
|---|---|---|
| Fabry patients | Adult patients whit genetically confirmed diagnosis of Fabry disease being treated or planning to start treatment with Pegunigalsidase alfa according to clinical practice. Participants will be required to meet the inclusion and exclusion criteria and sign informed consent to be enrolled in the study. Receives: Drug: pegunigalsidase alfa |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of structural abnormalities of the left ventricle
Changes from baseline in structural abnormalities of the left ventricle assessed by echocardiography and defined by the presence of Left Ventricular Hypertrophy.
Measured: 24 months
Assessment of left ventricular diastolic function
Changes from baseline in left ventricular diastolic function by echocardiography. Diastolic dysfunction will be assessed using early to late diastolic trans-mitral flow velocity.
Measured: 12 and 24 months
Assessment of renal function
Changes from baseline in renal function by estimated Glomerular Filtration Rate.
Measured: 6, 12, 18 and 24 months
Secondary outcomes (16)
Assessment of peak oxygen uptake (pVO2)
Changes from baseline in peak oxygen uptake (pVO2) using cardiopulmonary exercise testing (CPET).
Measured: 24 months
Assessment of carbon dioxide production (VCO2)
Changes from baseline in carbon dioxide production (VCO2) using cardiopulmonary exercise testing (CPET).
Measured: 24 months
Assessment of NT-pro-BNP and high sensitivity cardiac troponin levels
Changes from baseline in NT-pro-BNP and high sensitivity cardiac troponin levels.
Measured: 6, 12,18 and 24 months
Assessment of Cardiovascular Magnetic Resonance (CMR)
Changes from baseline in CMR assessed using T1 mapping to achieve myocardial tissue characterization.
Measured: 12 and 24 months
Assessment of proteinuria and microalbuminuria
Changes from baseline in proteinuria and microalbuminuria assessed on 24-hour urine sample.
Measured: 6, 12, 18 and 24 months
Assessment of Globotriaosylsphingosine (lyso-Gb3)
Changes from baseline in blood concentration of lyso-Gb3
Measured: 3, 6, 12 and 24 months
Assessment of QoL outcomes using the Short Form Health Survey 36 (SF-36)
Changes from baseline in SF-36 score. It is a disease-specific questionnaire consisting of eight domains, each represented by a scale calculated as the weighted sum of responses in the respective sections. Each domain score ranges from 0 to 100, with all questions given equal weight. A score of 0 indicates the worst possible health status, while a score of 100 represents the best possible health status.
Measured: 12 and 24 months
Assessment of QoL outcomes using the Kansas City Cardiomyopathy Questionnaire (KCCQ)
Changes from baseline in KCCQ scores. It measures patient's perception of their health status, focusing on heart failure symptoms, the impact on physical and social functioning, and the overall effect of heart failure on their QoL within a 2-week recall period. It evaluates seven domains, with scores ranging from 0 to 100, where lower scores indicate more severe symptoms or limitations, while a score of 100 represents no symptoms, no limitations, and excellent quality of life.
Measured: 12 and 24 months
Assessment of severity of neuropathic pain using Chronic Pain Grade (CPG)
Changes from baseline in CPG score. It is a 7-item questionnaire that evaluates chronic pain severity experienced over the past six months. Pain intensity is rated from 0 (no pain) to 10 ("pain as bad as it can be"). Scores for pain intensity and disability are combined to classify the overall severity of chronic pain into four grades, ranging from Grade 0 (no pain) to Grade IV (high disability, severely limiting).
Measured: 12 and 24 months
Assessment of severity of neuropathic pain using Short Form of the Brief Pain Inventory (BPI-SF)
Changes from baseline in BPI-SF score. It is a 9-item questionnaire assessing Pain Intensity and Pain Interference, as its impact on daily functions, over the past 24 hours. Pain intensity is rated on a 0 (no pain) to 10 (pain as bad as you can imagine) scale, across four measures: worst, least, average, and current pain. Pain interference with daily activities is also scored from 0 (no interference) to 10 (completely interferes).
Measured: 12 and 24 months
Assessment of gastrointestinal symptoms using the Gastrointestinal Symptoms Rating Scale (GSRS)
Changes from baseline in GSRS score. It is a 15-item questionnaire designed to assess changes in gastrointestinal symptoms across five clusters: reflux, abdominal pain, indigestion, diarrhea, and constipation. The GSRS uses a seven-point Likert-type scale, with scores ranging from 1 (no troublesome symptoms) to 7 (very troublesome symptoms).
Measured: 12 and 24 months
Assessment of specific Fabry disease ocular findings
Number of patients with presence of specific Fabry disease ocular findings (i.e. cornea verticillate) by slit lamp
Measured: Baseline, 12 and 24 months
Adverse events
Number of AEs
Measured: 24 months
Adverse drug reactions to pegunigalsidase alfa
Number of ADRs
Measured: 24 months
Anti-drug antibodies (ADAs) testing
Number of patients with ADAs
Measured: 24 months
Infusion-Related Reactions (IRRs)
Number of patients and occurrence of IRRs
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Aug 2025
- Study start15 Jun 2026
- Primary completionFeb 2029 (estimated)
- Study completionFeb 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.
- 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
- Prospective
- Enrolment
- 75 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chiesi Italia
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Antonio Pisani, MD, Principal investigator, AOU Federico II, Dipartimento di Nefrologia, Napoli, Italy
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07109375
- Sponsor's protocol ID
- CHIT-2401
- Acronym
- PEGASO
- Status last verified
- Jul 2026
- First submitted
- 10 Jul 2025
- Last updated
- 8 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No