Ignite Creation Date:
2024-05-06 @ 3:59 PM
Last Modification Date:
2024-10-26 @ 2:01 PM
Study NCT ID:
NCT04833361
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2024-06-14
First Post:
2021-04-05
Brief Title:
Potential Environmental Causes of Uveal Coloboma
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Pilot Evaluation of Potential Environmental Causes of Uveal Coloboma
Status:
ENROLLING_BY_INVITATION
Status Verified Date:
2024-06-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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:
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 childchildren
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 childchildren
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 000366-EI | None | None | None |