Clinical Trial Summary
Background:
Uveal coloboma is a congenital eye malformation. It is thought to be a genetic condition. But
it might have environmental causes as well. Researchers want to study the mothers of children
with coloboma. They will use parts of the National Birth Defects Prevention Study (NBDPS)
Mother Questionnaire. NBDPS was a large study of birth defects. It collected data from 1997
to 2011. Researchers will use NBDPS and NIH data as well as the new survey to produce data
that can serve as a basis for further study.
Objective:
To explore maternal factors and exposures during the first trimester of pregnancy as
potential causes of uveal coloboma and to correlate exposure data to clinical data from
affected children.
Eligibility:
Mothers of probands with coloboma who have taken part in NIH study 06-EI-0230, 04-EI-0039, or
13-EI-0049.
Design:
This is a hybrid study. It will use existing data from NBDPS and NIH studies. It will also
use NBDPS for a new survey of mothers of children with coloboma.
Participants will take the survey by phone. Their pregnancy records may be reviewed. They
will be asked about:
Important dates
Health and medicines
Tobacco, alcohol, and substance use
Parents occupations
Family demographics.
The survey will take 1 hour or less to complete.
Some data were obtained in past NIH studies. These data are largely from children. Some
family data may be used as well. For example, eye exam data, gene test results, and family
history of coloboma may be used. If a participant did not consent to the future use of their
data, then their data will not be used.
Data will be stored in a secure NIH database.
...
Study Description:
This evaluation of potential environmental causes of coloboma explores the experiences of a
large cohort of mothers of children with uveal coloboma using portions of the National Birth
Defects Prevention Study (NBDPS) Mother Questionnaire. It is postulated that maternal
hypothyroidism and in utero alcohol exposure are found at higher rates in this cohort than in
rates found in the general population. The goal is to produce descriptive statistic that
could serve as a basis for further epidemiologic studies.
Objectives:
The primary objective is to explore maternal factors and exposures during the first trimester
of pregnancy as potential causes of uveal coloboma and to correlate these exposures with the
clinical presentation of the affected child/children.
