Fabry DiseaseNCT04252066
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
An observational study of Fabry Disease, run by Amicus Therapeutics at 1 site in United States.
Trial summary
This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy and/or breastfeeding in women and infants exposed to migalastat. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Fabry Disease
- What is being tested?
- migalastat
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Mar 2025to Feb 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Pregnant and/or breastfeeding patients with Fabry disease
Who may be able to join
- Female patients meeting the following criteria will be eligible for study enrollment:
- Patients with Fabry disease who are pregnant and/or breastfeeding, whether or not they are exposed to migalastat
- Able and willing to provide informed consent or assent, if applicable.
- Able and willing to provide HCP contact information.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Amicus Therapeutics, Inc. Pregnancy Registry
Philadelphia, Pennsylvania, 19104
About this study
This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy and/or breastfeeding in women and infants exposed to migalastat.
Read the detailed description
This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy and/or breastfeeding in women and infants exposed to migalastat. All pregnant women with Fabry disease are eligible to enroll, an unexposed cohort potentially can be used for comparisons.
Cases will be reported voluntarily to the Pregnancy Coordinating Center (PCC) from any country by Healthcare Providers (HCPs), by patients and secondary contacts. The PCC will follow patients throughout their pregnancies and/or breastfeeding and infant through 1 year of age.
There will be 2 cohorts enrolled in the study. Cohort 1 will be pregnant and/or breastfeeding patients who have Fabry Disease, and have been exposed to at least 1 dose of migalastat during pregnancy and/or breastfeeding. Cohort 2 will be pregnant and/or breastfeeding patients who have Fabry Disease, who were not exposed to migalastat during pregnancy and/or breastfeeding.
This is an observational study, it will enroll patients and collect data as described in this protocol for a minimum of 10 years.
- Conditions
- Fabry Disease
- Being tested
- migalastat
- Keywords
- migalastat, Fabry Disease, Women with Fabry Disease
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
migalastatDrug
This is an observational study. Patients as described in Cohort 1 should have been exposed to at least 1 dose of migalastat during pregnancy and/or breastfeeding.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Cohort 1 will be pregnant and/or breastfeeding patients who have Fabry Disease, and have been exposed to at least 1 dose of migalastat during pregnancy and/or breastfeeding. Receives: Drug: migalastat | |
| Cohort 2 | Cohort 2 will be pregnant and/or breastfeeding patients who have Fabry Disease, who were not exposed to migalastat during pregnancy and/or breastfeeding. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of major birth defects
Measured: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Secondary outcomes (20)
Incidence of spontaneous abortion
Measured: : up to 20 weeks
Number of elective or induced abortion
Measured: Through the pregnancy, an average of 40 weeks
Number of fetal death or stillbirth
Measured: Greater than 20 weeks of pregnancy and through the pregnancy, average of 40 week
Number of live birth
Measured: at the delivery, an average of 40 weeks of pregnancy
Number of neonatal death
Measured: up to 28 days of neonatal life
Number of minor birth defects
Measured: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Number of ectopic or molar pregnancy
an ectopic or molar pregnancy occurs outside of the uterus.
Measured: Through the pregnancy, an average of 40 weeks
Neurodevelopmental problems
Measured: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Adverse fetal outcomes other than birth defects
Measured: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Number of obstetric and delivery complications
Measured: At the delivery, an average of 40 weeks of pregnancy
Occurrence of Jaundice cases in Infants
Measured: Up to 1 year
Number of hospitalizations in infants
Measured: Up to 1 year
Mortality in Infants
Measured: Up to 1 year
Head circumference in Infants (cm)
Measured: Up to 1 year
Weight in Infants (kilograms)
Measured: Up to 1 year
Length in Infants (cm)
Measured: Up to 1 year
Occurrence of milk allergic reaction in breastfed or formula supplemented infants
Measured: Up to 1 year
Occurrence of allergic reaction in patients who are breastfeeding
Measured: Up to 1 year
Frequency of adverse events effecting lactation
Measured: Up to 1 year
Incidence of all serious adverse events
Measured: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2020
- Study start18 Mar 2025
- Primary completionAug 2029 (estimated)
- Study completionFeb 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04252066
- Sponsor's protocol ID
- AT1001-037
- Status last verified
- Oct 2026
- First submitted
- 18 Dec 2019
- Last updated
- 28 Oct 2026
- Results posted
- No
- 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 28 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
- ClinicalTrials.gov ID
- NCT04252066
- Acronym / sponsor ID
- AT1001-037
- Conditions
- Fabry Disease
- Keywords
- migalastat, Fabry Disease, Women with Fabry Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 18 Mar 2025 (actual)
- Primary completion
- Aug 2029 (estimated)
- Study completion
- Feb 2030 (estimated)
- First posted
- 5 Feb 2020 (actual)
- Results
- Not posted in the source record
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 global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy and/or breastfeeding in women and infants exposed to migalastat.
Detailed description
This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy and/or breastfeeding in women and infants exposed to migalastat. All pregnant women with Fabry disease are eligible to enroll, an unexposed cohort potentially can be used for comparisons.
Cases will be reported voluntarily to the Pregnancy Coordinating Center (PCC) from any country by Healthcare Providers (HCPs), by patients and secondary contacts. The PCC will follow patients throughout their pregnancies and/or breastfeeding and infant through 1 year of age.
There will be 2 cohorts enrolled in the study. Cohort 1 will be pregnant and/or breastfeeding patients who have Fabry Disease, and have been exposed to at least 1 dose of migalastat during pregnancy and/or breastfeeding. Cohort 2 will be pregnant and/or breastfeeding patients who have Fabry Disease, who were not exposed to migalastat during pregnancy and/or breastfeeding.
This is an observational study, it will enroll patients and collect data as described in this protocol for a minimum of 10 years.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | Drug: migalastatCohort 1 will be pregnant and/or breastfeeding patients who have Fabry Disease, and have been exposed to at least 1 dose of migalastat during pregnancy and/or breastfeeding. |
| Cohort 2 | – | –Cohort 2 will be pregnant and/or breastfeeding patients who have Fabry Disease, who were not exposed to migalastat during pregnancy and/or breastfeeding. |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pregnant and/or breastfeeding patients with Fabry disease
Key inclusion criteria (4 listed)
- Patients with Fabry disease who are pregnant and/or breastfeeding, whether or not they are exposed to migalastat
- Able and willing to provide informed consent or assent, if applicable.
- Able and willing to provide HCP contact information.
Key exclusion criteria (1 listed)
- None
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 |
|---|---|---|
| migalastatThis is an observational study. Patients as described in Cohort 1 should have been exposed to at least 1 dose of migalastat during pregnancy and/or breastfeeding. | Drug | Cohort 1 |
Primary outcome
Number of major birth defects
Time frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
20 secondary outcomes
Incidence of spontaneous abortion
Time frame: : up to 20 weeks
Number of elective or induced abortion
Time frame: Through the pregnancy, an average of 40 weeks
Number of fetal death or stillbirth
Time frame: Greater than 20 weeks of pregnancy and through the pregnancy, average of 40 week
Number of live birth
Time frame: at the delivery, an average of 40 weeks of pregnancy
Number of neonatal death
Time frame: up to 28 days of neonatal life
Number of minor birth defects
Time frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Number of ectopic or molar pregnancy
Time frame: Through the pregnancy, an average of 40 weeks
Neurodevelopmental problems
Time frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Adverse fetal outcomes other than birth defects
Time frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Number of obstetric and delivery complications
Time frame: At the delivery, an average of 40 weeks of pregnancy
Occurrence of Jaundice cases in Infants
Time frame: Up to 1 year
Number of hospitalizations in infants
Time frame: Up to 1 year
Mortality in Infants
Time frame: Up to 1 year
Head circumference in Infants (cm)
Time frame: Up to 1 year
Weight in Infants (kilograms)
Time frame: Up to 1 year
Length in Infants (cm)
Time frame: Up to 1 year
Occurrence of milk allergic reaction in breastfed or formula supplemented infants
Time frame: Up to 1 year
Occurrence of allergic reaction in patients who are breastfeeding
Time frame: Up to 1 year
Frequency of adverse events effecting lactation
Time frame: Up to 1 year
Incidence of all serious adverse events
Time frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2026.
- 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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Amicus Therapeutics at 1 site in United States.
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 4 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 28 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pregnancy Registry Call Center (888-239-0758, galafoldpregnancy@ubc.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of major birth defects (time frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age). 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 28 Oct 2026.