Clinical trial NCT05225311: Fetal Ebstein Anomaly and Tricuspid Valve Dysplasia Registry
Official title: Fetal Ebstein Anomaly and Tricuspid Valve Dysplasia Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Ebstein Anomaly
Tricuspid Valve Dysplasia
Lead sponsor: The Hospital for Sick Children
Sponsor class: OTHER
First posted: 2022-02-04
Enrollment: 1500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Fetuses diagnosed with EA/TVD of any severity with normal segmental anatomy (AV and VA concordance)

Brief summary: Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) are rare congenital tricuspid valve malformations that carry among the highest mortality of all congenital heart disease diagnosed in utero. Despite the high mortality associated with severe EA/TVD in the fetus, it has only been studied retrospectively. By prospectively enrolling a cohort across multiple centers, many questions may be answered in the perinatal period and beyond. The registry will allow us to understand perinatal and postnatal decision-making in this complex group of patients across centers.

Given the rarity of the disease, a retrospective arm was added to the original prospective study in May 2024.


Eligibility criteria: Inclusion Criteria:

1. Mothers of fetuses (ages 14-54) diagnosed with EA/TVD of any severity with normal segmental anatomy (AV and VA concordance)

   1. Mothers may be enrolled at any gestational age, up to the day of pregnancy outcome (elective termination of pregnancy, demise, or live-birth)
   2. Singletons, twins or higher order multiples may be included
2. Consent obtained at a participating site

Exclusion Criteria:

1. Mothers of fetuses diagnosed with EA/TVD in the context of abnormal segmental anatomy (AV and/or VA discordance) or other lesions, such as congenitally corrected transposition of the great arteries or pulmonary atresia with intact ventricular septum
2. Unable or unwilling to provide consent

Primary outcomes:
measure: Proportion of fetuses who survive to live-birth at term
timeFrame: 37 0/7 to 40 0/7 weeks gestation
measure: Proportion of live-born children who survive to 30 days
timeFrame: 0-30 days
measure: Freedom from death beyond the neonatal period
timeFrame: 30 days-30 years
Secondary outcomes:
measure: Change in umbilical artery pulsatility index throughout gestation
timeFrame: 20 0/7 to 40 0/7 weeks gestation
measure: Proportion with hydrops throughout gestation
timeFrame: 20 0/7 to 40 0/7 weeks
measure: Average gestational age at birth
timeFrame: At birth
measure: Average birth weight
timeFrame: At birth
measure: Proportion who undergo neonatal cardiac surgery
timeFrame: 0-30 days
measure: Freedom from cardiac re-intervention
timeFrame: 30 days-30 years
measure: Freedom from cardiac arrhythmia
timeFrame: 30 days-30 years
measure: Infant neurodevelopment as assessed by Bayley Scales of Infant Development
timeFrame: 12-15 months
measure: Pediatric neurodevelopment as assessed by Adaptive Behavior Assessment System
timeFrame: 3-18 years
measure: Quality of life as assessed by Peds QL General and Cardiac Modules
timeFrame: 2-30 years
Other outcomes:
Locations:
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
Study officials:
References: