A Study of Patients With Fabry Disease (US Specific)
- Registration Number
- NCT06906367
- Lead Sponsor
- Amicus Therapeutics
- 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.
Recruitment & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 450
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Migalastat-treated migalastat HCl Migalastat-treated patients at the time of enrollment who started the treatment within the 24 months prior to enrollment. ERT-treated ERT Patients receiving ERT at the time of enrollment who started the treatment within the 24 months prior to enrollment.
- Primary Outcome Measures
Name Time Method Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR) Baseline and prospective up to 5 years Annualized rate of change in eGFR(CKD-EPI) over time from study enrollment for the comparison between migalastat-treated and untreated patients who have risk factors for eGFR decline
- Secondary Outcome Measures
Name Time Method Time to the first Fabry-associated clinical event (FACE) Retrospective and prospective up to 5 years Time to first FACE, which are cardiac, cerebrovascular, and renal events, and death due to FACEs, from start of treatment to compare between migalastat-treated and ERT-treated patients.
Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR) Retrospective and prospective up to 5 years Annualized rate of change in eGFR(CKD-EPI) from start of treatment over time for the comparison between migalastat-treated and ERT-treated patients
Incidence and occurrence of FACE Retrospective and prospective up to 5 years Incidence and occurrence of FACE will be evaluated overall, and separately by cardiac, cerebrovascular, and renal clinical events (including death in these categories)
Changes in plasma lyso Gb3 Retrospective and prospective up to 5 years Biomarker of disease
Changes in WBC α-Gal A enzyme activity in males Retrospective and prospective up to 5 years Biomarker of disease
Brief Pain Inventory (BPI)-Short Form Baseline and prospective up to 5 years A 12-question form using a 10-point scale to allow patients to rate the severity of their pain and the degree to which their pain interferes with common dimensions of feeling and function, along with a question about percentage of pain relief by analgesics
FABPRO-GI Short Form-v2-stomach pain domain Baseline and prospective up to 5 years Three questions regarding GI signs and symptoms over a 7-day recall period and a Bristol Stool Scale (BSS), providing a pictorial chart and descriptive text for 7 types of stools. Using a 10-point scale, patients will rate the severity of their worst occurrence of stomach pain and diarrhea from 0 (none) to 10 (worst possible). Frequency and consistency of diarrhea will be assessed, as patients will provide the number of stools they have each day of BSS Type 1 through BSS Type 7.
FABPRO-GI Short Form-v2-diarrhea domain Baseline and prospective up to 5 years Three questions regarding GI signs and symptoms over a 7-day recall period and a Bristol Stool Scale (BSS), providing a pictorial chart and descriptive text for 7 types of stools. Using a 10-point scale, patients will rate the severity of their worst occurrence of stomach pain and diarrhea from 0 (none) to 10 (worst possible). Frequency and consistency of diarrhea will be assessed, as patients will provide the number of stools they have each day of BSS Type 1 through BSS Type 7.
Number of days per week with at least 1 stool of BSS Type 6 or 7 (consistency) Baseline and prospective up to 5 years HRQOL by using PROs and health preference measures utility (SF-12) Baseline and prospective up to 5 years Patient-reported health-related quality of life (HRQOL) will be assessed using Short Form-12 (SF-12): An abridged practical version of the 36-item Short Form Health Survey (SF-36), which contains 8 subscales: physical functioning (2 items), role limitations due to physical problems (2 items), bodily pain (1 item), general health perceptions (1 item), vitality (1 item), social functioning (1 item), role limitations due to emotional problems (2 items), and mental health (2 items)
HRQOL by using PROs and health preference measures utility (EQ-5D) Baseline and prospective up to 5 years Patient-reported health-related quality of life (HRQOL) will be assessed using EuroQol-5D (EQ-5D), a preference-based HRQOL measure with 1 question for each of the 5 dimensions that include mobility, self-care, usual activities, pain/discomfort, and anxiety/depression. The EQ-5D questionnaire also includes a Visual Analog Scale, by which respondents can report their perceived health status with a grade ranging from 0 (the worst possible health status) to 100 (the best possible health status)
Occurrence of SAEs Baseline and prospective up to 5 years Overall survival among all patients enrolled Baseline and prospective up to 5 years Assessed by recorded patient deaths from any cause
Weekly number of stools of BSS Types 6 and 7 (frequency) Baseline and prospective up to 5 years HRQOL by using PROs and health preference measures utility (TSQM-9) Baseline and prospective up to 5 years Patient-reported health-related quality of life (HRQOL) will be assessed using Treatment Satisfaction Questionnaire for Medications-9 (TSQM-9, migalastat-treated patients only): A generic measure of treatment satisfaction for medication which assesses patient perception of effectiveness, side effects, convenience, and global satisfaction
Number of participants with male infertility Baseline and prospective up to 5 years
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