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
- 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: 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
Study at a glance
From the registry record, last updated by the sponsor on 8 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Prospective Cohort Study on Long-term Effective and Safe Use of Pegunigalsidase Alfa in Adult Fabry Patients Under "Real-world" Setting
- ClinicalTrials.gov ID
- NCT07109375
- Acronym / sponsor ID
- PEGASO / CHIT-2401
- Conditions
- Fabry Disease
- Keywords
- Pegunigalsidase alfa, Fabry disease, Real-world, Alpha-galactosidase A, Lysosomal storage disorders
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 75 participants (estimated)
- Lead sponsor
- Chiesi ItaliaIndustry (pharma, biotech, devices)
- Study start
- 15 Jun 2026 (actual)
- Primary completion
- Feb 2029 (estimated)
- Study completion
- Feb 2029 (estimated)
- First posted
- 7 Aug 2025 (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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fabry patients | – | Drug: pegunigalsidase alfaAdult 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
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: ElfabrioPegunigalsidase alfa is 2 mg/mL concentrate for solution and is administered via intravenous infusion every two weeks. | Drug | Fabry patients |
Primary outcome
Assessment of structural abnormalities of the left ventricle
Time frame: 24 months
Changes from baseline in structural abnormalities of the left ventricle assessed by echocardiography and defined by the presence of Left Ventricular Hypertrophy.
Assessment of left ventricular diastolic function
Time frame: 12 and 24 months
Changes from baseline in left ventricular diastolic function by echocardiography. Diastolic dysfunction will be assessed using early to late diastolic trans-mitral flow velocity.
Assessment of renal function
Time frame: 6, 12, 18 and 24 months
Changes from baseline in renal function by estimated Glomerular Filtration Rate.
16 secondary outcomes
Assessment of peak oxygen uptake (pVO2)
Time frame: 24 months
Assessment of carbon dioxide production (VCO2)
Time frame: 24 months
Assessment of NT-pro-BNP and high sensitivity cardiac troponin levels
Time frame: 6, 12,18 and 24 months
Assessment of Cardiovascular Magnetic Resonance (CMR)
Time frame: 12 and 24 months
Assessment of proteinuria and microalbuminuria
Time frame: 6, 12, 18 and 24 months
Assessment of Globotriaosylsphingosine (lyso-Gb3)
Time frame: 3, 6, 12 and 24 months
Assessment of QoL outcomes using the Short Form Health Survey 36 (SF-36)
Time frame: 12 and 24 months
Assessment of QoL outcomes using the Kansas City Cardiomyopathy Questionnaire (KCCQ)
Time frame: 12 and 24 months
Assessment of severity of neuropathic pain using Chronic Pain Grade (CPG)
Time frame: 12 and 24 months
Assessment of severity of neuropathic pain using Short Form of the Brief Pain Inventory (BPI-SF)
Time frame: 12 and 24 months
Assessment of gastrointestinal symptoms using the Gastrointestinal Symptoms Rating Scale (GSRS)
Time frame: 12 and 24 months
Assessment of specific Fabry disease ocular findings
Time frame: Baseline, 12 and 24 months
Adverse events
Time frame: 24 months
Adverse drug reactions to pegunigalsidase alfa
Time frame: 24 months
Anti-drug antibodies (ADAs) testing
Time frame: 24 months
Infusion-Related Reactions (IRRs)
Time frame: 24 months
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 8 Jul 2026.
- Individual participant dataSharing planned: No
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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.
Antonio Pisani, MD principal investigator
AOU Federico II, Dipartimento di Nefrologia, Napoli, Italy
7 sites in 1 country: 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 Italia at 7 sites in Italy.
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 4 inclusion and 3 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 8 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in Italy. 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 Chiesi Clinical Trial info (+3905212791, clinicaltrials_info@chiesi.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of structural abnormalities of the left ventricle (time frame: 24 months). The study lists 3 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 8 Jul 2026.