A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding

July 2, 2025 updated by: Amicus Therapeutics
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Amicus Therapeutics, Inc. Pregnancy Registry

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Pregnant and/or breastfeeding patients with Fabry disease

Description

Inclusion Criteria:

Female patients meeting the following criteria will be eligible for study enrollment:

  1. Patients with Fabry disease who are pregnant and/or breastfeeding, whether or not they are exposed to migalastat
  2. Able and willing to provide informed consent or assent, if applicable.
  3. Able and willing to provide HCP contact information.

Exclusion Criteria:

None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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.
Drug: migalastat
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.
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 the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of major birth defects
Time Frame: Through the pregnancy, an average of 40 weeks and up to 12 months of infant age
Through the pregnancy, an average of 40 weeks and up to 12 months of infant age

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Incidence of spontaneous abortion
Time Frame: : up to 20 weeks
: up to 20 weeks
Number of elective or induced abortion
Time Frame: Through the pregnancy, an average of 40 weeks
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
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
at the delivery, an average of 40 weeks of pregnancy
Number of neonatal death
Time Frame: up to 28 days of neonatal life
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
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
an ectopic or molar pregnancy occurs outside of the uterus.
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
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
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
At the delivery, an average of 40 weeks of pregnancy
Occurrence of Jaundice cases in Infants
Time Frame: Up to 1 year
Up to 1 year
Number of hospitalizations in infants
Time Frame: Up to 1 year
Up to 1 year
Mortality in Infants
Time Frame: Up to 1 year
Up to 1 year
Head circumference in Infants (cm)
Time Frame: Up to 1 year
Up to 1 year
Weight in Infants (kilograms)
Time Frame: Up to 1 year
Up to 1 year
Length in Infants (cm)
Time Frame: Up to 1 year
Up to 1 year
Occurrence of milk allergic reaction in breastfed or formula supplemented infants
Time Frame: Up to 1 year
Up to 1 year
Occurrence of allergic reaction in patients who are breastfeeding
Time Frame: Up to 1 year
Up to 1 year
Frequency of adverse events effecting lactation
Time Frame: Up to 1 year
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
Through the pregnancy, an average of 40 weeks and up to 12 months of infant age

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Amicus Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 18, 2025

Primary Completion (Estimated)

August 1, 2029

Study Completion (Estimated)

February 1, 2030

Study Registration Dates

First Submitted

December 18, 2019

First Submitted That Met QC Criteria

January 30, 2020

First Posted (Actual)

February 5, 2020

Study Record Updates

Last Update Posted (Actual)

July 8, 2025

Last Update Submitted That Met QC Criteria

July 2, 2025

Last Verified

July 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AT1001-037

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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