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

NCT04252066 | Recruiting FDA Drug

• 1 other identifier: AT1001-037
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Fabry Disease

Keywords

migalastat; Fabry Disease; Women with Fabry Disease

Outcome Measures

Primary Outcomes (1)

• Number of major birth defects

  Through the pregnancy, an average of 40 weeks and up to 12 months of infant age

Secondary Outcomes (20)

• Incidence of spontaneous abortion

  : up to 20 weeks

• Number of elective or induced abortion

  Through the pregnancy, an average of 40 weeks

• Number of fetal death or stillbirth

  Greater than 20 weeks of pregnancy and through the pregnancy, average of 40 week

• Number of live birth

  at the delivery, an average of 40 weeks of pregnancy

• Number of neonatal death

  up to 28 days of neonatal life

Study Arms (2)

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

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.

Interventions

migalastat DRUG

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 1

Eligibility Criteria

• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pregnant and/or breastfeeding patients with Fabry disease

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (1)

Amicus Therapeutics, Inc. Pregnancy Registry

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Interventions

migalastat

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Central Study Contacts

Pregnancy Registry Call Center

CONTACT

888-239-0758; galafoldpregnancy@ubc.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 18, 2019
• First Posted: February 5, 2020
• Study Start: March 18, 2025
• Primary Completion (Estimated): August 1, 2029
• Study Completion (Estimated): February 1, 2030
• Last Updated: July 8, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)