Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity
| Status: | Recruiting |
|---|---|
| Conditions: | Bronchitis, Ocular, Women's Studies, Pulmonary, Hematology |
| Therapuetic Areas: | Hematology, Ophthalmology, Pulmonary / Respiratory Diseases, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/6/2019 |
| Start Date: | January 29, 2013 |
| End Date: | July 15, 2019 |
| Contact: | Steven R Kleeberger, Ph.D. |
| Email: | kleeber1@niehs.nih.gov |
| Phone: | (919) 541-3540 |
Candidate Genes Associated With Susceptibility to Bronchopulmonary Dysplasia and Retinopathy of Prematurity
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.
- 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.
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.
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.
- 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.
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