Fabry Disease
Conditions
Keywords
Pegunigalsidase alfa, Fabry disease, Real-world, Alpha-galactosidase A, Lysosomal storage disorders
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.
Interventions
Pegunigalsidase alfa is 2 mg/mL concentrate for solution and is administered via intravenous infusion every two weeks.
Sponsors
Chiesi Italia
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of structural abnormalities of the left ventricle | 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 | 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 | 6, 12, 18 and 24 months | Changes from baseline in renal function by estimated Glomerular Filtration Rate. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of peak oxygen uptake (pVO2) | 24 months | Changes from baseline in peak oxygen uptake (pVO2) using cardiopulmonary exercise testing (CPET). |
| Assessment of carbon dioxide production (VCO2) | 24 months | Changes from baseline in carbon dioxide production (VCO2) using cardiopulmonary exercise testing (CPET). |
| Assessment of NT-pro-BNP and high sensitivity cardiac troponin levels | 6, 12,18 and 24 months | Changes from baseline in NT-pro-BNP and high sensitivity cardiac troponin levels. |
| Assessment of Cardiovascular Magnetic Resonance (CMR) | 12 and 24 months | Changes from baseline in CMR assessed using T1 mapping to achieve myocardial tissue characterization. |
| Assessment of proteinuria and microalbuminuria | 6, 12, 18 and 24 months | Changes from baseline in proteinuria and microalbuminuria assessed on 24-hour urine sample. |
| Assessment of Globotriaosylsphingosine (lyso-Gb3) | 3, 6, 12 and 24 months | Changes from baseline in blood concentration of lyso-Gb3 |
| Assessment of QoL outcomes using the Short Form Health Survey 36 (SF-36) | 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. |
| Assessment of QoL outcomes using the Kansas City Cardiomyopathy Questionnaire (KCCQ) | 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. |
| Assessment of severity of neuropathic pain using Chronic Pain Grade (CPG) | 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). |
| Assessment of severity of neuropathic pain using Short Form of the Brief Pain Inventory (BPI-SF) | 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). |
| Assessment of gastrointestinal symptoms using the Gastrointestinal Symptoms Rating Scale (GSRS) | 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). |
| Assessment of specific Fabry disease ocular findings | Baseline, 12 and 24 months | Number of patients with presence of specific Fabry disease ocular findings (i.e. cornea verticillate) by slit lamp |
| Adverse events | 24 months | Number of AEs |
| Adverse drug reactions to pegunigalsidase alfa | 24 months | Number of ADRs |
| Anti-drug antibodies (ADAs) testing | 24 months | Number of patients with ADAs |
| Infusion-Related Reactions (IRRs) | 24 months | Number of patients and occurrence of IRRs |
Countries
Italy
Contacts
CONTACTChiesi Clinical Trial info
PRINCIPAL_INVESTIGATORAntonio Pisani, MD
AOU Federico II, Dipartimento di Nefrologia, Napoli, Italy
Outcome results
None listed