Clinical trial NCT06906367: A Study of Patients With Fabry Disease (US Specific)
Official title: A Prospective, Observational Study of Patients With Fabry Disease (US Specific)
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Fabry Disease
Keywords: migalastat
AT1001
registry
lysosomal disease
Lead sponsor: Amicus Therapeutics
Sponsor class: INDUSTRY
First posted: 2025-04-02
Enrollment: 450
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Globally, approximately 450 patients with classic and late onset/nonclassic phenotypes of Fabry disease will be enrolled, with approximately 250 patients in the migalastat-treated group, 100 in the ERT-treated group, and approximately 100 patients in the untreated group.

Brief 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.

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.

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

Primary outcomes:
measure: Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
timeFrame: Baseline and prospective up to 5 years
Secondary outcomes:
measure: Time to the first Fabry-associated clinical event (FACE)
timeFrame: Baseline and prospective up to 5 years
measure: Time to the first Fabry-associated clinical event (FACE)
timeFrame: Retrospective and prospective up to 5 years
measure: Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)
timeFrame: Retrospective and prospective up to 5 years
measure: Incidence and occurrence of FACE
timeFrame: Retrospective and prospective up to 5 years
measure: Changes in plasma lyso Gb3
timeFrame: Retrospective and prospective up to 5 years
measure: Changes in WBC α-Gal A enzyme activity in males
timeFrame: Retrospective and prospective up to 5 years
measure: Brief Pain Inventory (BPI)-Short Form
timeFrame: Baseline and prospective up to 5 years
measure: FABPRO-GI Short Form-v2-stomach pain domain
timeFrame: Baseline and prospective up to 5 years
measure: FABPRO-GI Short Form-v2-diarrhea domain
timeFrame: Baseline and prospective up to 5 years
measure: Weekly number of stools of BSS Types 6 and 7 (frequency)
timeFrame: Baseline and prospective up to 5 years
measure: Number of days per week with at least 1 stool of BSS Type 6 or 7 (consistency)
timeFrame: Baseline and prospective up to 5 years
measure: HRQOL by using PROs and health preference measures utility (SF-12)
timeFrame: Baseline and prospective up to 5 years
measure: HRQOL by using PROs and health preference measures utility (EQ-5D)
timeFrame: Baseline and prospective up to 5 years
measure: HRQOL by using PROs and health preference measures utility (TSQM-9)
timeFrame: Baseline and prospective up to 5 years
measure: Occurrence of SAEs
timeFrame: Baseline and prospective up to 5 years
measure: Overall survival among all patients enrolled
timeFrame: Baseline and prospective up to 5 years
measure: Number of participants with male infertility
timeFrame: Baseline and prospective up to 5 years
Other outcomes:
Locations:
Study officials:
affiliation: Amicus Therapeutics
name: Clinical Research
role: STUDY_DIRECTOR
References: