Scientists hunt for genes behind rare eye conditions
NCT ID NCT01778543
First seen Jun 24, 2026 · Last updated Sep 18, 2026 · Updated 21 times
Summary
This study aims to uncover the genetic causes of a group of eye conditions called MAC (microphthalmia, anophthalmia, and uveal coloboma), which can lead to vision loss or blindness. Researchers will collect DNA samples from 600 people—both those with MAC and their close relatives—to search for gene changes linked to these disorders. Participants will undergo eye exams and provide blood or saliva samples. The goal is to better understand why these conditions occur, which may help with future diagnosis and family planning.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this research could identify new genes linked to MAC, improving genetic counseling and future diagnostic approaches.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly benefit participants, and genetic findings may take years to translate into clinical use.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 600 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2013
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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1 year to 100 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: * 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. (i) 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). EXCLUSION CRITERIA: * 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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