Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity

Completed

• Conditions: Bronchopulmonary Dysplasia; Retinopathy of Prematurity; Prematurity; Pulmonary Disease

• Registration Number: NCT01780155
• Lead Sponsor: National Institute of Environmental Health Sciences (NIEHS)

Brief Summary

Background:

- Some premature babies develop bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP). BPD and ROP are long-term chronic diseases of the lungs and eyes, respectively. BPD is associated with receiving mechanical ventilation to treat respiratory distress syndrome, and causes lung inflammation and scarring. ROP is caused by poor development of blood vessels in the eyes, and may lead to blindness. Because not all premature babies develop BPD or ROP, researchers want to study the genes that could be associated with these diseases. They will look at both premature infants and their parents to see if there is a genetic component to BPD and ROP.

Objectives:

- To study genes that may be associated with BPD and ROP.

Eligibility:

* Premature babies born with a weight less than or equal to 1,250 grams.

* Parents of the premature babies.

Design:

* Parents will answer questions about the mother s health and pregnancy.

* Delivery and medical information will be collected during the baby s hospitalization for the first month after birth.

* Parents will provide a saliva sample from the inside of the cheek.

* A saliva sample will also be collected from the baby within 28 days of birth. If the baby needs tracheal aspiration (removal of fluid from the throat), tracheal fluid samples will also be collected.

* Parents will have followup interviews about their child s health 6 months, 12 months, and yearly for up to 6 years after birth.

* This is a genetic study only. Treatment will not be provided as part of this study.

Detailed Description

Understanding the role of susceptibility genes for risk of BPD and ROP may lead to immediate identification of populations who require personalized medical care, and to the assessment of innovative prophylactic and therapeutic interventions in the future. Our purpose is to establish in our hospital network a prospective cohort of triads composed of premature newborns with a birth weight less than or equal to 1250 g and their parents, to examine the role of candidate susceptibility genes in the development of BPD and ROP. Our hypothesis is that the presence of single-nucleotide polymorphisms in candidate genes is associated with differential susceptibility to BPD and ROP. As an initial model, a loss-of-function substitution at position -617 of the NRF2 promoter region is hypothesized to be associated with a greater risk of severe BPD and prethreshold ROP in premature infants with a birth weight less than or equal to 1250 g.

Study Timeline

• Study First Submitted: 2013-01-29
• Study First Submitted QC: 2013-01-29
• Study First Posted: 2013-01-30
• Study Start: 2013-06-24
• Status Verified: 2019-08
• Primary Completion: 2020-07-20
• Study Completion: 2020-08-01
• Last Update Submitted: 2021-08-04
• Last Update Posted: 2021-08-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1068

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Bronchopulmonary dysplasia; retinopathy of prematurity	6 years

Trial Locations

Locations (8)

Hospital Italiano de Buenos Aires; 🇦🇷 Buenos Aires, Argentina

Instituto Medico de Obstretricia (IMO); 🇦🇷 Buenos Aires, Argentina

Sanatorio Otamendi y Miroli; 🇦🇷 Buenos Aires, Argentina

NIEHS, Research Triangle Park; 🇺🇸 Research Triangle Park, North Carolina, United States

Clinica Y Maternidad; 🇦🇷 Buenos Aires, Argentina

Fundacion Infant; 🇦🇷 Buenos Aires, Argentina

Sanatorio de la Trinidad; 🇦🇷 Buenos Aires, Argentina

Sanatario de los Arcos; 🇦🇷 Buenos Aires, Argentina