French Prospective, Observational Cohort Study of Patients With Fabry Disease Treated With Migalastat

Amicus Therapeutics France SAS48 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Fabry Disease

Interventions

NoninterventionalOTHER

Not applicable; Noninterventional study

Eligibility

Sex: ALLMin age: 16 Years

Medical Language ↔ Plain English

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

Locations (13)

CHU Angers

Angers, France

CHU de Bordeaux

Bordeaux, France

Hôpital Pellegrin

Bordeaux, France

CHU Caen

Caen, France

Outcomes

Primary Outcomes

Safety - SAEs

Evaluation of the occurrence ie the number of SAEs

Time frame: up to 60 months

Safety - vital signs

Evaluation of resting blood pressure

Time frame: up to 60 months

Effectiveness - Fabry Associated Clinical Events (FACEs)

Evaluation of the occurrence of the FACEs ie total number of cardiac, cerebrovascular, and renal events

Time frame: up to 60 months

Effectiveness - survival

Survival among all patients enrolled, as assessed by recorded patient death from any cause

Time frame: From date of inclusion until the date of death from any cause, assessed up to 60 months

SF-12 12-Item Short Form Health Survey

Evaluation of QOL by the 12-Item Short Form Health Survey (SF-12) ; the higher the score the worse the quality of life is

Time frame: up to 60 months

BPI

Brief pain inventory questionnaire ; the higher the score the more intense the pain is

Time frame: up to 60 months

FABPRO-GI

Fabry Disease Patient-Reported Outcome-Gastro intestinal Signs and Symptoms Questionnaire ; the higher the score the more importante the GI symptoms are

Time frame: inclusion to last visit

Cardiac echo imagery

Echocardiogram (Echo) Left Ventricular Mass Index (LVMI)

Time frame: up to 60 months

Data from ClinicalTrials.gov

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