Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting

N/ANot Yet RecruitingNCT07109375

Chiesi Italia75 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

Conditions

Fabry Disease

Interventions

pegunigalsidase alfaDRUG

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

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. Male and female adults (≥ 18 years). 2. Patients with a clinical diagnosis of Fabry disease confirmed by α-Gal A assay and detection of mutation in α-Gal A gene. 3. 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. 4. Written informed consent to participate in the study and for the processing of personal data. Exclusion Criteria: 1. History of hypersensitivity reaction to pegunigalsidase alfa. 2. 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. 3. Female subjects who are pregnant or planning to become pregnant during the study.

Locations (1)

AOU Federico II, Dipartimento di Nefrologia

Naples, Italy

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: 12 and 24 months

Assessment of renal function

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

Time frame: 6, 12, 18 and 24 months

Secondary Outcomes

Assessment of peak oxygen uptake (pVO2)

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

Time frame: 24 months

Assessment of carbon dioxide production (VCO2)

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

Time frame: 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.

Time frame: 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.

Central Contacts

Chiesi Clinical Trial info

CONTACT

+3905212791 clinicaltrials_info@chiesi.com

Data from ClinicalTrials.gov

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Time frame: 12 and 24 months

Assessment of proteinuria and microalbuminuria

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

Time frame: 6, 12, 18 and 24 months

Assessment of Globotriaosylsphingosine (lyso-Gb3)

Changes from baseline in blood concentration of lyso-Gb3

Time frame: 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.

Time frame: 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.

Time frame: 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).

Time frame: 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).

Time frame: 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).

Time frame: 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

Time frame: Baseline, 12 and 24 months

Adverse events

Number of AEs

Time frame: 24 months

Adverse drug reactions to pegunigalsidase alfa

Number of ADRs

Time frame: 24 months

Anti-drug antibodies (ADAs) testing

Number of patients with ADAs

Time frame: 24 months

Infusion-Related Reactions (IRRs)

Number of patients and occurrence of IRRs

Time frame: 24 months