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NCT Number: NCT07109375

Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a 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.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

AUSL Toscana Sud-Est - Ospedale San Donato, Arezzo, Italy

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Treatment and study plan

pegunigalsidase alfa

Drug

Pegunigalsidase alfa is 2 mg/mL concentrate for solution and is administered via intravenous infusion every two weeks.

Other names: Elfabrio

Primary outcomes

  1. 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.

  2. 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.

  3. Assessment of renal function

    Time frame: 6, 12, 18 and 24 months

    Changes from baseline in renal function by estimated Glomerular Filtration Rate.

Secondary outcomes

  1. Assessment of peak oxygen uptake (pVO2)

    Time frame: 24 months

    Changes from baseline in peak oxygen uptake (pVO2) using cardiopulmonary exercise testing (CPET).

  2. Assessment of carbon dioxide production (VCO2)

    Time frame: 24 months

    Changes from baseline in carbon dioxide production (VCO2) using cardiopulmonary exercise testing (CPET).

  3. Assessment of NT-pro-BNP and high sensitivity cardiac troponin levels

    Time frame: 6, 12,18 and 24 months

    Changes from baseline in NT-pro-BNP and high sensitivity cardiac troponin levels.

  4. Assessment of Cardiovascular Magnetic Resonance (CMR)

    Time frame: 12 and 24 months

    Changes from baseline in CMR assessed using T1 mapping to achieve myocardial tissue characterization.

  5. Assessment of proteinuria and microalbuminuria

    Time frame: 6, 12, 18 and 24 months

    Changes from baseline in proteinuria and microalbuminuria assessed on 24-hour urine sample.

  6. Assessment of Globotriaosylsphingosine (lyso-Gb3)

    Time frame: 3, 6, 12 and 24 months

    Changes from baseline in blood concentration of lyso-Gb3

  7. Assessment of QoL outcomes using the Short Form Health Survey 36 (SF-36)

    Time frame: 12 and 24 months

    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.

  8. Assessment of QoL outcomes using the Kansas City Cardiomyopathy Questionnaire (KCCQ)

    Time frame: 12 and 24 months

    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.

  9. Assessment of severity of neuropathic pain using Chronic Pain Grade (CPG)

    Time frame: 12 and 24 months

    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).

  10. Assessment of severity of neuropathic pain using Short Form of the Brief Pain Inventory (BPI-SF)

    Time frame: 12 and 24 months

    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).

  11. Assessment of gastrointestinal symptoms using the Gastrointestinal Symptoms Rating Scale (GSRS)

    Time frame: 12 and 24 months

    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).

  12. Assessment of specific Fabry disease ocular findings

    Time frame: Baseline, 12 and 24 months

    Number of patients with presence of specific Fabry disease ocular findings (i.e. cornea verticillate) by slit lamp

  13. Adverse events

    Time frame: 24 months

    Number of AEs

  14. Adverse drug reactions to pegunigalsidase alfa

    Time frame: 24 months

    Number of ADRs

  15. Anti-drug antibodies (ADAs) testing

    Time frame: 24 months

    Number of patients with ADAs

  16. Infusion-Related Reactions (IRRs)

    Time frame: 24 months

    Number of patients and occurrence of IRRs

Study contacts

Contact information is provided by the study sponsor or research team.

Chiesi Clinical Trial info

CONTACT

[email protected]

+3905212791

Sponsors and collaborators

Lead sponsor

Chiesi Italia

Industry

Registry information

Official study title

Observational Prospective Cohort Study on Long-term Effective and Safe Use of Pegunigalsidase Alfa in Adult Fabry Patients Under "Real-world" Setting

Acronym: PEGASO

Important dates

Study start
2026
Primary completion
2029
Study completion
2029
First posted
Aug 7, 2025
Registry last updated
Jul 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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