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NCT01778543 · ClinicalTrials.gov registry record
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
A clinical trial of Coloboma and Anophthalmia, sponsored by National Eye Institute (NEI).
- Recruiting
- Registry status
- 600
- Enrollment target
- 1
- Study location
NCT01778543 is a study of Coloboma and Anophthalmia that is actively recruiting participants, run by National Eye Institute (NEI). The registered enrollment target is 600 participants. The trial reports 1 study location across 1 state.
The verdict
NCT01778543, a study of Coloboma and Anophthalmia, is actively recruiting participants, sponsored by National Eye Institute (NEI).
- RECRUITING
- Registry status
- 600 participants
- Enrollment target
- 1
- Study location
Study 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. 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.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 600 participants |
| Start Date | 2013-01-08 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT01778543
The ClinicalTrials.gov registry entry for NCT01778543 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 600 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Eye Institute (NEI), which has 221 total studies on file at ClinicalTrials.gov.
The record links to 3 conditions, with Coloboma appearing as the primary indexed condition, and to 0 interventions.
NCT01778543 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT01778543 about?
NCT01778543 is a clinical study titled "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 anop...
What is the current status of trial NCT01778543?
This trial is currently recruiting. The enrollment target is 600 participants. The study started on 2013-01-08.
What conditions does trial NCT01778543 study?
This clinical trial studies the following conditions: Coloboma, Anophthalmia, Microphthalmia.
Who is sponsoring clinical trial NCT01778543?
This trial is sponsored by National Eye Institute (NEI), which has 221 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT01778543 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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