Clinical trial NCT06941025: Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Official title: Maternal and Postnatal Outcomes Study (MOS) A Worldwide Decentralized Observational Registry to Evaluate the Safety in Women With Fabry Disease and Their Infants Exposed to Elfabrio® (Pegunigalsidase Alfa-iwxj/Pegunigalsidase Alfa) During Pregnancy and/or Lactation
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Fabry Disease
Pregnancy
Pregnancy Complications
Lead sponsor: Chiesi Farmaceutici S.p.A.
Sponsor class: INDUSTRY
Collaborators: name: ICON plc
First posted: 2025-04-23
Enrollment: 10
Sex: FEMALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant and/or breastfeeding women with Fabry disease and their infants, after exposure to at least 1 dose of pegunigalsidase alfa during pregnancy and/or during lactation.

Brief summary: The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa within 30 days prior to conception and/or during pregnancy and lactation.

The main objectives are to:

* Assess pregnancy outcomes, including maternal and infant health.
* Evaluate the occurrence of congenital malformations and other neonatal outcomes.

This is a global, decentralized, single-arm, prospective and retrospective registry planned to enroll participants over a 10-year period. Eligible patients may be enrolled by their physician or may self-enroll, where permitted by local regulations. Data will be collected through a secure web-based platform, allowing patients and physicians to enter information via electronic case report forms (eCRFs).

Pregnancy and clinical outcomes will be documented throughout pregnancy and up to 12 months post-birth. Data from self-enrolled patients will be confirmed by their primary care or attending physician. This registry is observational and does not impact clinical care or treatment decisions.

Detailed description: This is a global, decentralized, single-arm, prospective and retrospective observational registry designed to evaluate pregnancy and infant outcomes in women with Fabry disease who have been exposed to pegunigalsidase alfa within 30 days prior to conception and/or during pregnancy and lactation. The registry aims to assess maternal and infant safety, pregnancy outcomes, and the occurrence of congenital malformations and other neonatal conditions.

The registry will enroll patients over a 10-year period. Eligible patients may be enrolled by their physician or may self-enroll, where permitted by local regulations. Data collection will be facilitated through a secure, centralized web-based platform, where patients and physicians can enter information using electronic case report forms (eCRFs).

Enrollment \& Data Collection:

Patients can be enrolled at any time, either during pregnancy or after delivery. Depending on the timing of enrollment, data will be collected retrospectively and/or prospectively.

Pregnancy and clinical outcomes will be monitored from enrollment until the infant reaches 12 months of age.

Collected data includes maternal health, pregnancy complications, delivery outcomes, congenital malformations, and infant health parameters.

Reported congenital malformations will be classified according to established criteria (e.g., MACDP, EUROCAT) and adjudicated by an independent Scientific Advisory Committee.

The registry is observational and does not alter clinical care, physician treatment decisions, or patient management.

Eligibility criteria: Inclusion Criteria:

* Female patients with Fabry disease who have been exposed to at least 1 dose of pegunigalsidase alfa at any time during pregnancy (defined as having received pegunigalsidase alfa within 30 days prior to the DOC and/or during pregnancy) and/or during lactation, and their infants.

  o DOC, defined as 20/7 gestational weeks, will be calculated from last menstrual period \[LMP\] or ultrasound
* Patient or parent/legally authorized representative must be able to understand and provide consent through an Institutional Review Board / Independent Ethics Committee (IRB/IEC) approved Informed Consent Form.

Exclusion Criteria:

* None

Primary outcomes:
measure: Pregnancy outcome: Number of live births
timeFrame: at the delivery, after an average of 40 weeks of pregnancy
measure: Pregnancy outcome: Number of preterm birth
timeFrame: at delivery, prior to 37 weeks of gestation
measure: Pregnancy outcome: Number of pregnancy losses (number of spontaneous abortions , number of pregnancy terminations, number of foetal deaths or stillbirths)
timeFrame: spontaneous abortions: up to 20 weeks of pregnancy; pregnancy terminations: through the pregnancy; number of foetal deaths or stillbirths: greater than 20 weeks of pregnancy and through the pregnancy, average of 40 weeks
Secondary outcomes:
measure: Number of neonates/infants with MCMs
timeFrame: through the pregnancy, an average of 40 weeks and up to 12 months of infant age
measure: Number of ectopic or molar pregnancies
timeFrame: through the pregnancy, an average of 40 weeks
measure: Number of women with obstetric and delivery complications
timeFrame: at the delivery, an average of 40 weeks of pregnancy
measure: Number of women with complications of preeclampsia or eclampsia
timeFrame: through the pregnancy, an average of 40 weeks
measure: Number of women with complications of preterm prelabour rupture of membrane
timeFrame: at delivery, prior to 37 weeks of gestation
measure: Number of neonates/infants with minor congenital malformations
timeFrame: through the pregnancy, an average of 40 weeks and up to 12 months of infant age
measure: Number of infants with developmental deficiency
timeFrame: up to 12 months of infant age
measure: Number of hospitalisations in infants
timeFrame: up to 12 months of infant age
measure: Mortality in infants, including neonatal death and infant death
timeFrame: up to 12 months of infant age
measure: Head circumference in infants (cm)
timeFrame: up to 12 months of infant age
measure: Weight in infants (kilograms)
timeFrame: up to 12 months of infant age
measure: Length in infants (cm)
timeFrame: up to 12 months of infant age
measure: Number of infants born as SGA
timeFrame: up to 12 months of infant age
measure: Number of infants with postnatal growth deficiency or FTT
timeFrame: up to 12 months of infant age
measure: Duration of breastfeeding, number of exclusively breastfeeding women and number of breastfeeding women supplemented with formula
timeFrame: up to 12 months of infant age
measure: Number of adverse events in infants exposed to pegunigalsidase alfa during breastfeeding
timeFrame: up to 12 months of infant age
Other outcomes:
Locations:
city: Washington
country: United States
facility: No physical study sites - Decentralized, web-based registry
state: District of Columbia
city: Berlin
country: Germany
facility: No physical study sites - Decentralized, web-based registry
city: Rome
country: Italy
facility: No physical study sites - Decentralized, web-based registry
city: Madrid
country: Spain
facility: No physical study sites - Decentralized, web-based registry
city: London
country: United Kingdom
facility: No physical study sites - Decentralized, web-based registry
Study officials:
References: