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NCT Number: NCT04252066

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

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.

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Key information

Conditions

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

Sex eligibility

Female

Study type

Observational

Primary location

Amicus Therapeutics, Inc. Pregnancy Registry

Philadelphia, Pennsylvania, 19104, United States

Location status: Recruiting

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. 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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.

Exclusion criteria

None

Treatment and study plan

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.

Primary outcomes

  1. Number of major birth defects

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

Secondary outcomes

  1. Incidence of spontaneous abortion

    Time frame: : up to 20 weeks

  2. Number of elective or induced abortion

    Time frame: Through the pregnancy, an average of 40 weeks

  3. Number of fetal death or stillbirth

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

  4. Number of live birth

    Time frame: at the delivery, an average of 40 weeks of pregnancy

  5. Number of neonatal death

    Time frame: up to 28 days of neonatal life

  6. Number of minor birth defects

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

  7. 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.

  8. Neurodevelopmental problems

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

  9. 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

  10. Number of obstetric and delivery complications

    Time frame: At the delivery, an average of 40 weeks of pregnancy

  11. Occurrence of Jaundice cases in Infants

    Time frame: Up to 1 year

  12. Number of hospitalizations in infants

    Time frame: Up to 1 year

  13. Mortality in Infants

    Time frame: Up to 1 year

  14. Head circumference in Infants (cm)

    Time frame: Up to 1 year

  15. Weight in Infants (kilograms)

    Time frame: Up to 1 year

  16. Length in Infants (cm)

    Time frame: Up to 1 year

  17. Occurrence of milk allergic reaction in breastfed or formula supplemented infants

    Time frame: Up to 1 year

  18. Occurrence of allergic reaction in patients who are breastfeeding

    Time frame: Up to 1 year

  19. Frequency of adverse events effecting lactation

    Time frame: Up to 1 year

  20. Incidence of all serious adverse events

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

Study contacts

Contact information is provided by the study sponsor or research team.

Pregnancy Registry Call Center

CONTACT

[email protected]

888-239-0758

Sponsors and collaborators

Lead sponsor

Amicus Therapeutics

Industry

Registry information

Important dates

Study start
2025
Primary completion
2029
Study completion
2030
First posted
Feb 5, 2020
Registry last updated
Jul 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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