ColobomaNCT04833361
Potential Environmental Causes of Uveal Coloboma
An observational study of Coloboma, run by National Eye Institute (NEI) at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 18 to 100 years, women only
- Conditions the study is for
- Coloboma
- How many people
- 87 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Jun 2023to 17 Mar 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Up to 180 mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.
Who may be able to join
- mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Eye Institute (NEI)
Bethesda, Maryland, 20892
About this study
Official title: Pilot Evaluation of Potential Environmental Causes of Uveal Coloboma
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.
Read more
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.
...
Read the 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 child/children.
- Conditions
- Coloboma
- Keywords
- Questionnaire, Microphthalmia, Birth Defects, Natural History
- Medical subject headings
- Coloboma, Microphthalmos, Congenital Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Mothers | Mothers of children with coloboma. |
What is being measured
The primary outcome is the main question the study is designed to answer.
% of participants with x exposure compared to historical data
% of participants with x exposure compared to historical data from NBDPS study.
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Apr 2021
- Study start20 Jun 2023
- Primary completion17 Mar 2025
- Study completion17 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ColobomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 87 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Brian P Brooks, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04833361
- Sponsor's protocol ID
- 10000366
- Other IDs
- 000366-EI
- Status last verified
- 15 Sep 2026
- First submitted
- 5 Apr 2021
- Last updated
- 17 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Evaluation of Potential Environmental Causes of Uveal Coloboma
- ClinicalTrials.gov ID
- NCT04833361
- Acronym / sponsor ID
- 10000366
- Conditions
- Coloboma
- Keywords
- Questionnaire, Microphthalmia, Birth Defects, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 87 participants (actual)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 20 Jun 2023 (actual)
- Primary completion
- 17 Mar 2025 (actual)
- Study completion
- 17 Mar 2025 (actual)
- First posted
- 6 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Family based
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mothers | – | –Mothers of children with coloboma. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Up to 180 mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.
Key inclusion criteria (1 listed)
- mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
% of participants with x exposure compared to historical data
Time frame: ongoing
% of participants with x exposure compared to historical data from NBDPS study.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Sep 2026.
- Individual participant dataSharing planned: Undecided
Related trials for Coloboma
RecruitingObservational study
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
Coloboma, Anophthalmia
RecruitingObservational study
Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Microphthalmia, Coloboma
RecruitingObservational study
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
Rare Fetal Genetic Diseases, Congenital Malformation
RecruitingObservational study
Modeling Ocular Developmental Diseases From 3D Cultures of Optic Vesicle Organoids Derived From hiPSCs of Patients With Ocular Malformations
Eye Abnormalities
Enrolling by invitation
Palliative Care Needs of Children With Rare Diseases and Their Families
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Brian P Brooks, M.D. principal investigator
National Eye Institute (NEI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Coloboma, run by National Eye Institute (NEI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
% of participants with x exposure compared to historical data (time frame: ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Sep 2026.