Potential Environmental Causes of Uveal Coloboma

Study Overview
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Brief Summary
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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. ...

Detailed Description
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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.

Official Title
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Pilot Evaluation of Potential Environmental Causes of Uveal Coloboma

Conditions
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Coloboma

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Mothers<br>Mothers of children with coloboma. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| % of participants with x exposure compared to historical data | % of participants with x exposure compared to historical data from NBDPS study. | ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Questionnaire, Microphthalmia, Birth Defects, Natural History