Fabry DiseasePhase 3NCT04049760
Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
A Phase 3 study testing migalastat HCl 150 mg in people with Fabry Disease, run by Amicus Therapeutics at 6 sites in 2 countries.
Trial summary
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants Read more about this study
- Who is it for?
- Ages 12 to 17 years
- Conditions the study is for
- Fabry Disease
- What is being tested?
- migalastat HCl 150 mg
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 16 participants
- Where
- 6 sitesin 2 countries
- Study dates
- 11 Oct 2019to 29 Nov 2024
- Phase
- Phase 3
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Male or female subjects diagnosed with Fabry disease > 12 years of age who completed Study AT1001-020
- Subject's parent or legally-authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent, if applicable
- If of reproductive potential, both male and female subjects agreed to use a medically accepted method of contraception throughout the duration of the study and for up to 30 days after their last dose of migalastat
Who cannot join
- Subject's last available estimated glomerular filtration rate (eGFR) in the previous study was < 60 mL/min/1.73 m2
- Subject had advanced kidney disease requiring dialysis or kidney transplantation
- Subject received any investigational/experimental drug, biologic, or device within 30 days before baseline, with the exception of migalastat
- Subject anticipated starting gene therapy during the study period
- Subject had any intercurrent illness or condition at Visit 1 that may have precluded the subject from fulfilling the protocol requirements or suggested to the investigator that the potential subject may have an unacceptable risk by participating in this study
- Subject had a history of allergy or sensitivity to migalastat (including excipients) or other iminosugars (eg, miglustat, miglitol)
Show all 10Show fewer
- Subject required treatment with Replagal® (agalsidase alfa) or Fabrazyme® (agalsidase beta)
- Subject required treatment with Glyset® (miglitol) or Zavesca® (miglustat)
- Female subject was pregnant or breast-feeding, or was planning to become pregnant during the study period
- In the opinion of the investigator, the subject and/or parent or legally-authorized representative was unlikely or unable to comply with the study requirements
Trial locations and contacts
6 sites in 2 countries.
6 sites in 2 countries
United States5 sites
The Emory Clinic
Atlanta, Georgia, 30322
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
Lysosomal & Rare Disorders Research & Treatment Center
Fairfax, Virginia, 22030
University of Minnesota Masonic Children's Hospital and Clinics
Minneapolis, Minnesota, 55454
University of South Florida
Tampa, Florida, 33606
About this study
Official title: A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
- Conditions
- Fabry Disease
- Being tested
- migalastat HCl 150 mg
- Keywords
- Lysosomal disease, migalastat
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
migalastat HCl 150 mgDrug
Also called migalastat, AT1001
migalastat HCl 150 mg capsule
| Study group | Role | What they receive |
|---|---|---|
| migalastat HCl 150 mg | Experimental | One migalastat 123 mg capsule equivalent to 150 mg migalastat HCl will be administered every other day (QOD) during the treatment period. Receives: Drug: migalastat HCl 150 mg |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug
Number of subjects with TEAE, SAE, and AE leading to discontinuation during the study period
Measured: Entire study
Secondary outcomes (8)
Change From Baseline to Month 24 in Estimated Glomerular Filtration Rate (eGFR)
Estimated GFR was calculated using the modified Schwartz formula according to the standards of the central laboratory.
Measured: Baseline, Month 24
Change From Baseline to Month 24 in Urine Protein Levels
Renal function was assessed by urine protein levels (mg/L). Urine samples were collected as part of urinalysis.
Measured: Baseline, Month 24
Change From Baseline to Month 24 in Urine Albumin
Renal function was assessed by urine albumin levels (mg/L). Urine samples were collected as part of urinalysis
Measured: Baseline, Month 24
Change From Baseline to Month 24 in Left Ventricular Mass Index (LVMi)
LVMi was assessed as a measure of cardiac impairment in the study participants. LVMi values for both M-mode and 2D views are presented.
Measured: Baseline, Month 24
Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores
The Pediatric Quality of Life Inventory (PedsQL™) was a modular approach to measuring health-related quality of life (QoL) in healthy children and adolescents and those with acute and chronic health conditions. All components of the PedsQL were scored based on a scale of 0 (never) to 4 (almost always) and linearly transformed to a 0 to 100 scale as follows: 0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0. Psychosocial, physical, and total scores were calculated based on the response to the questions within the patient reported outcome. The psychosocial score for the PedsQL encompassed 15 questions relating to the subjects' feelings, social interaction with others, and school. The physical score was derived from answers to 8 questions about the subjects' ease of managing physical activity. Total scores were the sum of all the item scores over the number of items answered on all the scales. Change from baseline values of <0 represents worsening, 0 equals no change, and >0 represents improvement.
Measured: Baseline, Month 24
Change From Baseline to Month 24 in Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ) Score for Pain Intensity
The Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ) included questions about Fabry disease-specific symptoms. The assessment of "How bad is your pain today?" was measured on a 10- point scale from 0 (no pain) to 10 (pain as bad as you can imagine). A decrease from baseline indicates an improvement in the condition.
Measured: Baseline, Month 24
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ)
Subjects were asked "In the last 3 months how many times did you experience sudden onset of pain?" and responses were reported in the FPHPQ. Responses were categorized as 0, 1 to 3, 4 to 6, and > 6 occurrences of sudden onset of pain.
Measured: Month 24
Change From Baseline to Month 24 in Plasma Levels of Lyso-Gb3
Blood samples were collected for measurement of lyso-Gb3 levels in plasma. Plasma levels of lyso-Gb3 were measured using a validated liquid chromatography-mass spectrometry assay.
Measured: Baseline, Month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Aug 2019
- Study start11 Oct 2019
- Primary completion29 Nov 2024
- Study completion29 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 16 participants (actual)
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04049760
- Sponsor's protocol ID
- AT1001-036
- Other IDs
- 2019-000222-21, 2019
- Status last verified
- Jan 2026
- First submitted
- 30 Jul 2019
- Last updated
- 5 Feb 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
- ClinicalTrials.gov ID
- NCT04049760
- Acronym / sponsor ID
- AT1001-036
- Conditions
- Fabry Disease
- Keywords
- Lysosomal disease, migalastat
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 16 participants (actual)
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 11 Oct 2019 (actual)
- Primary completion
- 29 Nov 2024 (actual)
- Study completion
- 29 Nov 2024 (actual)
- First posted
- 8 Aug 2019 (actual)
- Results
- Posted 17 Jun 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| migalastat HCl 150 mg | Experimental | Drug: migalastat HCl 150 mgOne migalastat 123 mg capsule equivalent to 150 mg migalastat HCl will be administered every other day (QOD) during the treatment period. |
Who may qualify
- Ages
- 12 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Male or female subjects diagnosed with Fabry disease > 12 years of age who completed Study AT1001-020
- Subject's parent or legally-authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent, if applicable
- If of reproductive potential, both male and female subjects agreed to use a medically accepted method of contraception throughout the duration of the study and for up to 30 days after their last dose of migalastat
Key exclusion criteria (10 listed)
- Subject's last available estimated glomerular filtration rate (eGFR) in the previous study was < 60 mL/min/1.73 m2
- Subject had advanced kidney disease requiring dialysis or kidney transplantation
- Subject received any investigational/experimental drug, biologic, or device within 30 days before baseline, with the exception of migalastat
- Subject anticipated starting gene therapy during the study period
- Subject had any intercurrent illness or condition at Visit 1 that may have precluded the subject from fulfilling the protocol requirements or suggested to the investigator that the potential subject may have an unacceptable risk by participating in this study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| migalastat HCl 150 mgAlso: migalastat, AT1001migalastat HCl 150 mg capsule | Drug | migalastat HCl 150 mg |
Primary outcome
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug
Time frame: Entire study
Number of subjects with TEAE, SAE, and AE leading to discontinuation during the study period
8 secondary outcomes
Change From Baseline to Month 24 in Estimated Glomerular Filtration Rate (eGFR)
Time frame: Baseline, Month 24
Change From Baseline to Month 24 in Urine Protein Levels
Time frame: Baseline, Month 24
Change From Baseline to Month 24 in Urine Albumin
Time frame: Baseline, Month 24
Change From Baseline to Month 24 in Left Ventricular Mass Index (LVMi)
Time frame: Baseline, Month 24
Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores
Time frame: Baseline, Month 24
Change From Baseline to Month 24 in Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ) Score for Pain Intensity
Time frame: Baseline, Month 24
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ)
Time frame: Month 24
Change From Baseline to Month 24 in Plasma Levels of Lyso-Gb3
Time frame: Baseline, Month 24
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Feb 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
6 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing migalastat HCl 150 mg in people with Fabry Disease, run by Amicus Therapeutics at 6 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 17 Jun 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug (time frame: Entire study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Feb 2026.