A Study of Patients With Fabry Disease (US Specific)

Official title

A Prospective, Observational Study of Patients With Fabry Disease (US Specific)

Overview

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.

Detailed description

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.

Interventions

• Drug migalastat HCl
  Non-interventional study of participants receiving migalastat HCl 150 mg
• Drug ERT
  Non-interventional study of participants receiving enzyme replacement therapy

Primary outcome measures

• Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR) [Time frame: Baseline and prospective up to 5 years]

Secondary outcome measures (12)

• Time to the first Fabry-associated clinical event (FACE) [Time frame: Baseline and prospective up to 5 years]
• Time to the first Fabry-associated clinical event (FACE) [Time frame: Retrospective and prospective up to 5 years]
• Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR) [Time frame: Retrospective and prospective up to 5 years]
• Incidence and occurrence of FACE [Time frame: Retrospective and prospective up to 5 years]
• Changes in plasma lyso Gb3 [Time frame: Retrospective and prospective up to 5 years]
• Changes in WBC α-Gal A enzyme activity in males [Time frame: Retrospective and prospective up to 5 years]
• Brief Pain Inventory (BPI)-Short Form [Time frame: Baseline and prospective up to 5 years]
• FABPRO-GI Short Form-v2-stomach pain domain [Time frame: Baseline and prospective up to 5 years]
• FABPRO-GI Short Form-v2-diarrhea domain [Time frame: Baseline and prospective up to 5 years]
• Weekly number of stools of BSS Types 6 and 7 (frequency) [Time frame: Baseline and prospective up to 5 years]
• Number of days per week with at least 1 stool of BSS Type 6 or 7 (consistency) [Time frame: Baseline and prospective up to 5 years]
• HRQOL by using PROs and health preference measures utility (SF-12) [Time frame: Baseline and prospective up to 5 years]

Eligibility criteria

I. Migalastat-treated patients (Commercial only participants)

• 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
• Patients who show a decline in their Fabry disease symptomatology based on any of the following:

• a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
• 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
• proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment
• 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)

• 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

• 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
• Patients who show a decline in their Fabry disease symptomatology based on any of the following:

• a decrease in annualized rate of decline eGFRCKD-EPI of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
• 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
• proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment
• males with classic Fabry disease phenotype

V. ERT-treated patients

• 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
• Patients who show a decline in their Fabry disease symptomatology based on any of the following:

• a decrease in eGFRCKD-EPI annualized rate of decline of ≥ 2 mL/min/1.73 m2 during the 2 years prior to enrollment
• 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
• proteinuria (> 0.5 g/g UPCR) any time prior to or at enrollment
• 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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Cohort

Study locations

United States · 8 centers

• UAB Nephrology Research Clinic at Paula Building — Birmingham
• Arkansas Children's Hospital — Little Rock
• Emory Genetics — Atlanta
• Washington University School of Medicine — St Louis
• New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical Cen — New York
• UPMC Children's Hospital of Pittsburgh — Pittsburgh
• Renal Disease Research Institute — Dallas
• Lysosomal and Rare Disorders Research and Treatment Center, Inc. — Fairfax

Identifiers

NCT: NCT06906367 · AT1001-030X

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗