ColobomaNCT01778543
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
An observational study of Coloboma and Anophthalmia, run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
Background: Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Read more about this study
- Who is it for?
- Ages 1 year to 100 years
- Conditions the study is for
- Coloboma, Anophthalmia, Microphthalmia
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Jan 2013to 27 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 1 year to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants will be ascertained through other pre-existing protocols, such as the NEI Ocular Natural History protocol (16-EI-0134), the NEI Screening protocol (08-EI-0102), through another similar, existing protocol or through referral from an outside clinician after a review of pertinent medical records. Six hundred (600) participants of at least one year of age with documented MAC and their relatives will be enrolled. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the MAGIC Study at Baylor College of Medicine.
Who may be able to join
- The participant must be one year of age or older.
- The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.
- The participant must be able to provide a blood, buccal/saliva, or DNA sample.
- The participant must be able to understand and sign this protocol s informed consent form OR have a legally authorized representative (LAR) with the ability to do the same.
- The participant must either:
- a. be affected by MAC(i) OR
- b. be an asymptomatic relative of an affected individual.
- Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation co-segregating with MAC, or a rare or unique kidney finding).
Who cannot join
- Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a LAR may reach out regarding participation in the study.
- Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Background:
- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings).
Read more
Objectives:
- To study the genes associated with MAC.
Eligibility:
- Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling).
Design:
- Participants will have a physical exam and medical history. They will also have a full eye exam.
- Participants with MAC may have other exams, such as imaging studies and hearing assessments.
- All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.
Read the detailed description
Objective: The objectives of this study are to: 1) define ocular, systemic, and other associations in a cohort of well-phenotyped participants with microphthalmia, anophthalmia and/or uveal coloboma (MAC); 2) define risk factors and microforms of MAC in relatives of affected individuals; and 3) establish a repository of DNA and/or lymphoblastoid cell lines from select participants for use in laboratory investigations when scientifically indicated.
Study Population: Six hundred (600) individuals of at least one year of age with documented MAC and their relatives will be enrolled. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children (MAGIC Study) at Baylor College of Medicine (Baylor Protocol # H-49046, NCT06293560).
Design: This is a natural history/genetic repository study. Six hundred (600) participants will be enrolled over fifteen years. Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood, buccal cell/saliva, or DNA sample.
Outcome Measures: The tests, data and samples collected will be analyzed to better understand the genetics of MAC. In particular, ocular, and systemic associations will be defined in a cohort of well-phenotyped participants with MAC, as will the risk factors and microforms of these disorders in relatives of affected individuals.
- Conditions
- Coloboma, Anophthalmia, Microphthalmia
- Keywords
- Repository, Natural History, Genetics
- Medical subject headings
- Coloboma, Anophthalmos, Microphthalmos
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 |
|---|---|---|
| MAC | Participants with MAC and their family members. |
What is being measured
The primary outcome is the main question the study is designed to answer.
The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.
The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.
Measured: end of study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2013 (estimated)
- Study start8 Jan 2013
- Primary completion27 Dec 2027 (estimated)
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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 600 participants (estimated)
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
- NCT01778543
- Sponsor's protocol ID
- 130049
- Other IDs
- 13-EI-0049
- Status last verified
- 23 Sep 2026
- First submitted
- 26 Jan 2013
- Last updated
- 5 Nov 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 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
- ClinicalTrials.gov ID
- NCT01778543
- Acronym / sponsor ID
- 130049
- Conditions
- Coloboma, Anophthalmia, Microphthalmia
- Keywords
- Repository, Natural History, Genetics
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 8 Jan 2013 (actual)
- Primary completion
- 27 Dec 2027 (estimated)
- First posted
- 29 Jan 2013 (estimated)
- 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 condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings).
Objectives:
- To study the genes associated with MAC.
Eligibility:
- Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling).
Design:
- Participants will have a physical exam and medical history. They will also have a full eye exam.
- Participants with MAC may have other exams, such as imaging studies and hearing assessments.
- All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.
Detailed description
Objective: The objectives of this study are to: 1) define ocular, systemic, and other associations in a cohort of well-phenotyped participants with microphthalmia, anophthalmia and/or uveal coloboma (MAC); 2) define risk factors and microforms of MAC in relatives of affected individuals; and 3) establish a repository of DNA and/or lymphoblastoid cell lines from select participants for use in laboratory investigations when scientifically indicated.
Study Population: Six hundred (600) individuals of at least one year of age with documented MAC and their relatives will be enrolled. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children (MAGIC Study) at Baylor College of Medicine (Baylor Protocol # H-49046, NCT06293560).
Design: This is a natural history/genetic repository study. Six hundred (600) participants will be enrolled over fifteen years. Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood, buccal cell/saliva, or DNA sample.
Outcome Measures: The tests, data and samples collected will be analyzed to better understand the genetics of MAC. In particular, ocular, and systemic associations will be defined in a cohort of well-phenotyped participants with MAC, as will the risk factors and microforms of these disorders in relatives of affected individuals.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MAC | – | –Participants with MAC and their family members. |
Who may qualify
- Ages
- 1 year to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants will be ascertained through other pre-existing protocols, such as the NEI Ocular Natural History protocol (16-EI-0134), the NEI Screening protocol (08-EI-0102), through another similar, existing protocol or through referral from an outside clinician after a review of pertinent medical records. Six hundred (600) participants of at least one year of age with documented MAC and their relatives will be enrolled. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the MAGIC Study at Baylor College of Medicine.
Key inclusion criteria (8 listed)
- The participant must be one year of age or older.
- The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.
- The participant must be able to provide a blood, buccal/saliva, or DNA sample.
- The participant must be able to understand and sign this protocol s informed consent form OR have a legally authorized representative (LAR) with the ability to do the same.
- The participant must either:
Key exclusion criteria (2 listed)
- Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a LAR may reach out regarding participation in the study.
- Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.
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
The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.
Time frame: end of study
The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
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 and Anophthalmia, 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 8 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 5 Nov 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Daniel W Claus, R.N. ((301) 451-1621, daniel.claus@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The tests, data, and samples collected will be analyzed to better understand the genetics of MAC. (time frame: end of study). 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 5 Nov 2026.