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Potential Environmental Causes of Uveal Coloboma

NCT04833361 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 76

Last updated 2025-10-02

No results posted yet for this study

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.

...

Conditions

  • Coloboma

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Brian P Brooks, M.D. · National Eye Institute (NEI)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-06-20
Primary Completion
2025-03-17
Completion
2025-03-17

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04833361 on ClinicalTrials.gov