Clinical trial NCT01780155: Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity
Official title: Candidate Genes Associated With Susceptibility to Bronchopulmonary Dysplasia and Retinopathy of Prematurity
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Bronchopulmonary Dysplasia
Retinopathy of Prematurity
Prematurity
Pulmonary Disease
Keywords: Oxidative Stress
Hyperoxia
Brochopulmonary Dysplasia
Retinopathy of Prematurity
Very Low Birth Rate
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2013-01-30
Enrollment: 1068
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: Participants will be recruited irrespective of gender, ethnicity, race, or socio-economic status. Parents and premature newborns with a birth weight less than or equal to1250 g from member institutions of the hospital network will be invited to participate in this study.@@@

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.

Eligibility criteria: * INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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.

Primary outcomes:
measure: Bronchopulmonary dysplasia; retinopathy of prematurity
timeFrame: 6 years
Secondary outcomes:
Other outcomes:
Locations:
city: Research Triangle Park
country: United States
facility: NIEHS, Research Triangle Park
state: North Carolina
city: Buenos Aires
country: Argentina
facility: Clinica Y Maternidad
city: Buenos Aires
country: Argentina
facility: Fundacion Infant
city: Buenos Aires
country: Argentina
facility: Hospital Italiano de Buenos Aires
city: Buenos Aires
country: Argentina
facility: Instituto Medico de Obstretricia (IMO)
city: Buenos Aires
country: Argentina
facility: Sanatario de los Arcos
city: Buenos Aires
country: Argentina
facility: Sanatorio de la Trinidad
city: Buenos Aires
country: Argentina
facility: Sanatorio Otamendi y Miroli
Study officials:
affiliation: National Institute of Environmental Health Sciences (NIEHS)
name: Steven R Kleeberger, Ph.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Anderson CG, Benitz WE, Madan A. Retinopathy of prematurity and pulse oximetry: a national survey of recent practices. J Perinatol. 2004 Mar;24(3):164-8. doi: 10.1038/sj.jp.7211067.
citation: Asikainen TM, Huang TT, Taskinen E, Levonen AL, Carlson E, Lapatto R, Epstein CJ, Raivio KO. Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity. Free Radic Biol Med. 2002 Jan 15;32(2):175-86. doi: 10.1016/s0891-5849(01)00776-6.
citation: Clyman R. Oxygen-saturation targets and outcomes in extremely preterm infants. J Pediatr. 2004 Mar;144(3):408. No abstract available.