Potential Environmental Causes of Uveal Coloboma
Study Details
Study Description
Brief 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.
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| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
Uveal coloboma is a rare, potentially-blinding congenital eye malformation due to failure of the optic fissure to close during the 5th week of human gestation. Although coloboma is thought to have a significant genetic component, the yield of systematic screening of known causative genes remains low. Environmental causes for coloboma have been suggested, yet few to none have been proven and most studies have not been undertaken in the United States6-8. Potential environmental causes include maternal nutritional deficiencies, drug exposure (including alcohol), and endocrine abnormalities. Some reports are conflicting (e.g., maternal diabetes) and some associations have been suggested by animal models, but not explored in humans . Most human studies are level III and IV evidence by the Agency for Healthcare Research and Quality grading scale.
Uveal coloboma is often grouped together with anophthalmia ( no eyes ) and microphthalmia ( small eyes ), designated by the acronym MAC . Detailed, population-based studies of the epidemiology of microphthalmia and anophthalmia have been conducted as part of birth defect surveillance programs.
The proposed pilot evaluation of potential environmental causes of coloboma is being undertaken to explore the experiences in a large cohort of probands and their families. It will utilize portions of the validated National Birth Defects Prevention Study (NBDPS) Mother Questionnaire. The NBDPS was a large population-based multicenter case-control study of many major birth defects that collected data from October 1997 through December 2011. Interview pregnancy information was obtained in 32,187 cases and 11,814 controls. The findings are intended to produce descriptive statistics and serve as a basis for further epidemiologic (and possibly laboratory) study.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Mothers Mothers of children with coloboma. |
Outcome Measures
Primary Outcome Measures
- % of participants with x exposure compared to historical data [ongoing]
% of participants with x exposure compared to historical data from NBDPS study.
Eligibility Criteria
Criteria
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INCLUSION CRITERIA:
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mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | National Eye Institute (NEI) | Bethesda | Maryland | United States | 20892 |
Sponsors and Collaborators
- National Eye Institute (NEI)
Investigators
- Principal Investigator: Brian P Brooks, M.D., National Eye Institute (NEI)
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 10000366
- 000366-EI