Fabry Disease
Conditions
Brief summary
This is a noninterventional cohort study to evaluate the effects of migalastat, on long-term safety, effectiveness, and quality of life (QOL) in patients with Fabry disease.
Detailed description
Occurrence of key indicators of safety and effectiveness will be evaluated, such as cardiac, cerebrovascular and renal events, and overall survival. The study is designed to provide effectiveness and safety data by Q2 2023 which will cover a period up to 5 years after the migalastat launch date. This will involve a retrospective data collection up to migalastat initiation (for patients already receiving migalastat) and a prospective follow-up from 1 to 3.5 years (depending on the time of enrollment) in migalastat-treated patients with Fabry disease who have a GLA mutation amenable to migalastat. All visits will be scheduled and conducted according to the clinical site's standard of care. Standard of care is defined as a diagnostic and customary clinical treatment/practice process that a clinician chooses according to their clinical judgement for a Fabry disease patient. There are no study- required visits, tests or clinical assessments.
Interventions
OTHERNoninterventional
Not applicable; Noninterventional study
Sponsors
Amicus Therapeutics France SAS
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Inclusion criteria
* Patients with Fabry disease aged 16 years or older * eGFRCKD-EPI \> 30 mL/min/1.73 m2 * treated with migalastat, or who are starting migalastat upon enrollment * Patients with Fabry disease and/or parents/guardians (when applicable) who are able to understand and have provided a signed non-opposition form. * Equipped with a web connection via a computer or tablet
Exclusion criteria
* Patients who are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment. * Patients already included in the present study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety - SAEs | up to 60 months | Evaluation of the occurrence ie the number of SAEs |
| Safety - vital signs | up to 60 months | Evaluation of resting blood pressure |
| Effectiveness - Fabry Associated Clinical Events (FACEs) | up to 60 months | Evaluation of the occurrence of the FACEs ie total number of cardiac, cerebrovascular, and renal events |
| Effectiveness - survival | From date of inclusion until the date of death from any cause, assessed up to 60 months | Survival among all patients enrolled, as assessed by recorded patient death from any cause |
| SF-12 12-Item Short Form Health Survey | up to 60 months | Evaluation of QOL by the 12-Item Short Form Health Survey (SF-12) ; the higher the score the worse the quality of life is |
| BPI | up to 60 months | Brief pain inventory questionnaire ; the higher the score the more intense the pain is |
| FABPRO-GI | inclusion to last visit | Fabry Disease Patient-Reported Outcome-Gastro intestinal Signs and Symptoms Questionnaire ; the higher the score the more importante the GI symptoms are |
| Cardiac echo imagery | up to 60 months | Echocardiogram (Echo) Left Ventricular Mass Index (LVMI) |
| Treatment compliance | up to 60 months | Patient adherence evaluation (% of taken intakes per month) as reported monthly through self-reports of forgotten intakes by the patient |
Countries
France
Outcome results
None listed