a study of patients with fabry disease (us specific)

Conditions: Fabry Disease

Summary: this is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (hrqol) in patients with fabry disease, with a main focus on migalastat.

this is a prospective, multicenter, observational, effectiveness, safety, and outcomes study enrolling at least 450 patients with fabry disease globally (at least 250 patients in the migalastat-treated group, approximately 100 patients in the ert-treated group, and approximately 100 patients in the untreated group \[patients who have never been on treatment for fabry disease\]). enrollment will continue for a period of 5 years and all patients will be followed for up to 5 years after their enrollment. disclaimer: this is a global study, the country level requirements may vary from site to site. the requirements noted in this posting are specific to the us.

Eligibility criteria:
i. migalastat-treated patients (commercial only participants) 1. patients with fabry disease 18 years or older with amenable gla variants who have commenced commercial migalastat treatment within 24 months preceding enrollment, who have an egfr greater than or equal to 30 ml/min/1.73 m2 at the time of enrollment and are still taking migalastat at the time of enrollment, or who are starting migalastat at the time of enrollment, excluding those who participated in a prior migalastat clinical trial 2. patients who show a decline in their fabry disease symptomatology based on any of the following: 1. a decrease in annualized rate of decline egfrckd-epi of ≥ 2 ml/min/1.73 m2 during the 2 years prior to enrollment 2. microalbuminuria/macroalbuminuria (≥ 30 mg/24 h or ≥ 20 mg on first morning urine) or urine acr of ≥ 30 mg/g (via spot urine collection) at any time prior to or at enrollment 3. proteinuria (\> 0.5 g/g upcr) any time prior to or at enrollment 4. males with classic fabry disease phenotype ii. migalastat-treated patients who are not considered to be in renal decline (commercial migalastat users only) 1. patients with fabry disease with amenable gla variants who have been on commercial migalastat regardless of the duration of treatment iii. migalastat-treated patients (prior clinical trial participants) 1. patients with fabry disease 18 years or older who had commenced treatment with migalastat while in a clinical trial and were exposed to treatment for at least 24 months preceding enrollment, who have an egfr greater than or equal to 30 ml/min/1.73 m2 at the time of enrollment, and who are still taking migalastat at the time of enrollment, having switched to commercial product iv. untreated patients 1. patients with fabry disease 18 years or older with amenable gla variants, who have never been on treatment for fabry disease, who have an egfr greater than or equal to 30 ml/min/1.73 m2 at the time of enrollment, and who meet local treatment guidelines for fabry disease 2. patients who show a decline in their fabry disease symptomatology based on any of the following: 1. a decrease in annualized rate of decline egfrckd-epi of ≥ 2 ml/min/1.73 m2 during the 2 years prior to enrollment 2. microalbuminuria/macroalbuminuria (≥ 30 mg/24 h or ≥ 20 mg on first morning urine) or urine acr of ≥ 30 mg/g (via spot urine collection) at any time prior to or at enrollment 3. proteinuria (\> 0.5 g/g upcr) any time prior to or at enrollment 4. males with classic fabry disease phenotype v. ert-treated patients 1. patients with fabry disease 18 years or older who have commenced ert within 24 months preceding enrollment, who have an egfr greater than or equal to 30 ml/min/1.73 m2 at the time of enrollment and are still being treated with ert at the time of enrollment, and who have amenable gla variants 2. patients who show a decline in their fabry disease symptomatology based on any of the following: 1. a decrease in egfrckd-epi annualized rate of decline of ≥ 2 ml/min/1.73 m2 during the 2 years prior to enrollment 2. microalbuminuria/macroalbuminuria (≥ 30 mg/24 h or ≥ 20 mg on first morning urine) or urine acr of ≥ 30 mg/g (via spot urine collection) at any time prior to or at enrollment 3. proteinuria (\> 0.5 g/g upcr) any time prior to or at enrollment 4. males with classic fabry disease phenotype all patients 1. all treated and untreated patients with fabry disease who are enrolled in the study must be able to understand and provide written informed consent or assent. exclusion criteria 1. patients who currently are participating in a clinical trial of any investigational medicinal product or device at the time of enrollment

Keywords: migalastat at1001 registry lysosomal disease