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Clinical Trials/NCT07109375
NCT07109375
Not yet recruiting
Not Applicable

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

Chiesi Italia1 site in 1 country75 target enrollmentStarted: April 1, 2026Last updated:

Overview

Phase
Not Applicable
Status
Not yet recruiting
Sponsor
Chiesi Italia
Enrollment
75
Locations
1
Primary Endpoint
Assessment of structural abnormalities of the left ventricle

Overview

Brief 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.

Study Design

Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Eligibility Criteria

Ages
18 Years to — (Adult, Older Adult)
Sex
All
Accepts Healthy Volunteers
No

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.

Arms & Interventions

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.

Intervention: pegunigalsidase alfa (Drug)

Outcomes

Primary Outcomes

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.

Secondary Outcomes

  • Assessment of peak oxygen uptake (pVO2)(24 months)
  • Assessment of carbon dioxide production (VCO2)(24 months)
  • Assessment of NT-pro-BNP and high sensitivity cardiac troponin levels(6, 12,18 and 24 months)
  • Assessment of Cardiovascular Magnetic Resonance (CMR)(12 and 24 months)
  • Assessment of proteinuria and microalbuminuria(6, 12, 18 and 24 months)
  • Assessment of Globotriaosylsphingosine (lyso-Gb3)(3, 6, 12 and 24 months)
  • Assessment of QoL outcomes using the Short Form Health Survey 36 (SF-36)(12 and 24 months)
  • Assessment of QoL outcomes using the Kansas City Cardiomyopathy Questionnaire (KCCQ)(12 and 24 months)
  • Adverse events(24 months)
  • Adverse drug reactions to pegunigalsidase alfa(24 months)
  • Infusion-Related Reactions (IRRs)(24 months)
  • Assessment of severity of neuropathic pain using Chronic Pain Grade (CPG)(12 and 24 months)
  • Assessment of severity of neuropathic pain using Short Form of the Brief Pain Inventory (BPI-SF)(12 and 24 months)
  • Assessment of specific Fabry disease ocular findings(Baseline, 12 and 24 months)
  • Assessment of gastrointestinal symptoms using the Gastrointestinal Symptoms Rating Scale (GSRS)(12 and 24 months)
  • Anti-drug antibodies (ADAs) testing(24 months)

Investigators

Sponsor
Chiesi Italia
Sponsor Class
Industry
Responsible Party
Sponsor

Study Sites (1)

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