Current partner codePEPTIDESDE
NCT06906367·Not applicable·OBSERVATIONAL

A Study of Patients With Fabry Disease (US Specific)

Status

Recruiting

Phase

Not applicable

Enrollment

450

Locations

8

Results

Not posted

Publications

0

Study summary

What the protocol is testing.

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.

Full 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

Treatment arms and agents.

DRUG

migalastat HCl

Non-interventional study of participants receiving migalastat HCl 150 mg

DRUG

ERT

Non-interventional study of participants receiving enzyme replacement therapy

Timeline

From registration to results.

  1. First posted

    Apr 2, 2025

  2. Study start

    Feb 13, 2026

  3. Primary completion

    Jun 2032

  4. Study completion

    Jun 2032

  5. Results posted

    Not reported

  6. Registry updated

    Jul 10, 2026

Outcomes

What the study measures.

Primary outcomes

Annualized rate of change in Estimated Glomerular Filtration Rate (eGFR)

Time frame · 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 outcomes

Time to the first Fabry-associated clinical event (FACE)

Time frame · Baseline and prospective up to 5 years

Time to first FACE, which are cardiac, cerebrovascular, and renal events, and death due to FACEs, from enrollment in the study to compare between migalastat-treated and untreated patients.

Time to the first Fabry-associated clinical event (FACE)

Time frame · 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)

Time frame · 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

Time frame · 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

Time frame · Retrospective and prospective up to 5 years

Biomarker of disease

Changes in WBC α-Gal A enzyme activity in males

Time frame · Retrospective and prospective up to 5 years

Biomarker of disease

Brief Pain Inventory (BPI)-Short Form

Time frame · 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

Time frame · 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

Time frame · 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.

Weekly number of stools of BSS Types 6 and 7 (frequency)

Time frame · Baseline and prospective up to 5 years

Eligibility

Who can take part.

Minimum age
18 Years
Maximum age
Not reported
Sex
ALL
Healthy volunteers
No

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

Study locations

8 registered sites.

United States. Showing up to 24 locations stored in the fast local snapshot.

UAB Nephrology Research Clinic at Paula Building

Birmingham, Alabama, United States

Arkansas Children's Hospital

Little Rock, Arkansas, United States

Emory Genetics

Atlanta, Georgia, United States

Washington University School of Medicine

St Louis, Missouri, United States

New York-Presbyterian Morgan Stanley Children's Hospital - Columbia University Medical Center

New York, New York, United States

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Renal Disease Research Institute

Dallas, Texas, United States

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Fairfax, Virginia, United States

Publications

Results and literature.

No PMID-linked publications were present in this registry snapshot.

Primary links

Continue at the source.

Related trials

More studies on Larazotide.

Related PeptideStat pages

Put the record in context.

Research pages describe evidence. Vendor pages, where available, describe independently tracked research-product listings and are not clinical recommendations.