Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 9, 2017 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Environmental Health Sciences (NIEHS) ) Identifier:
First received: January 29, 2013
Last updated: April 20, 2017
Last verified: February 9, 2017


- 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.


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


  • Premature babies born with a weight less than or equal to 1,250 grams.
  • Parents of the premature babies.


  • 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.

Bronchopulmonary Dysplasia
Retinopathy of Prematurity
Pulmonary Disease

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Candidate Genes Associated With Susceptibility to Bronchopulmonary Dysplasia and Retinopathy of Prematurity

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Bronchopulmonary dysplasia; retinopathy of prematurity [ Time Frame: 6 years ]

Estimated Enrollment: 3600
Study Start Date: November 15, 2012
Estimated Study Completion Date: July 15, 2018
Estimated Primary Completion Date: July 15, 2018 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Premature newborns with a birth weight less than or equal to 1250 g and their parents from the participating institutions that comprise the Fundacion Infant hospital network will be enrolled in this study after signing the informed consent.


Premature newborns with a birth weight less than or equal to 1250 g with cyanotic congenital heart disease, congenital anomalies of the respiratory tract (for example, tracheoesophageal fistula, pulmonary hypoplasia, diaphragmatic hernia), eye malformations, or congenital immunodeficiencies. Newborns from parents (mother and/or father) who used in vitro fertilization products from donor banks will also be excluded from participating in the study.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01780155

Contact: Steven R Kleeberger, Ph.D. (919) 541-3540

United States, North Carolina
NIEHS, Research Triangle Park Recruiting
Research Triangle Park, North Carolina, United States, 27709
Clinica Y Maternidad Recruiting
Suizo, Argentina
Sponsors and Collaborators
National Institute of Environmental Health Sciences (NIEHS)
Principal Investigator: Steven R Kleeberger, Ph.D. National Institute of Environmental Health Sciences (NIEHS)
  More Information

Responsible Party: National Institute of Environmental Health Sciences (NIEHS) Identifier: NCT01780155     History of Changes
Other Study ID Numbers: 999913031
Study First Received: January 29, 2013
Last Updated: April 20, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Oxidative Stress
Brochopulmonary Dysplasia
Retinopathy of Prematurity
Very Low Birth Rate

Additional relevant MeSH terms:
Lung Diseases
Retinal Diseases
Premature Birth
Retinopathy of Prematurity
Bronchopulmonary Dysplasia
Respiratory Tract Diseases
Eye Diseases
Pathologic Processes
Obstetric Labor, Premature
Obstetric Labor Complications
Pregnancy Complications
Infant, Premature, Diseases
Infant, Newborn, Diseases
Ventilator-Induced Lung Injury
Lung Injury processed this record on May 23, 2017