ClinicalTrials.gov record NCT04252066

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexFemale

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational study follows women with Fabry Disease who are pregnant and/or breastfeeding and their infants. It enrolls two groups: those exposed to at least 1 dose of migalastat during pregnancy or breastfeeding, and those not exposed. Data are collected by a Pregnancy Coordinating Center and infants are followed through 1 year of age. The study will collect data for a minimum of 10 years.

What it is studying. The study is collecting information on pregnancy and breastfeeding outcomes and infant health up to one year, to describe events (for example, birth defects, pregnancy loss, delivery complications, infant growth, hospitalizations, jaundice, allergic reactions, and serious adverse events) in relation to migalastat exposure.

What the researchers hope to learn. To describe pregnancy and infant outcomes in women with Fabry Disease exposed or not exposed to migalastat, including major and minor birth defects, pregnancy loss, delivery complications, infant growth and measurements, hospitalizations, jaundice, allergic reactions, lactation-related events, and serious adverse events.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug: migalastat

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants or their healthcare providers report cases to a Pregnancy Coordinating Center (PCC). The PCC follows the woman through her pregnancy and/or breastfeeding period and follows the infant through 1 year of age, collecting information on pregnancy and infant outcomes. This is an observational follow-up; the registry states data will be collected prospectively and maintained for a minimum of 10 years. The registry does not describe any invasive study procedures.

How the study is structured. A global, prospective observational registry. Cases are voluntarily reported to a Pregnancy Coordinating Center by healthcare providers, patients, or secondary contacts. Two cohorts are followed: women who received at least one dose of migalastat during pregnancy and/or breastfeeding, and women who were not exposed. No treatments are assigned by the study; participants and their infants are followed through pregnancy, breastfeeding, and up to 1 year of infant age, with data collected for at least 10 years.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Mar 18, 2025
Primary completion: August 2029 (estimated)
Study completion: February 2030 (estimated)
Target enrollment: 20 participants (estimated)
Last updated on registry: Jul 8, 2025
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Amicus Therapeutics

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Pregnancy Registry Call Center 📞 888-239-0758 ✉ galafoldpregnancy@ubc.com

Participating sites (1)

Amicus Therapeutics, Inc. Pregnancy RegistryRecruiting
Philadelphia, Pennsylvania, 19104 · United States

Terms used on this page · explanations by MedicalUpdates.ai

enrollment: The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
assent: A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
cohort: A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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