Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
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: Recruiting study of Coloboma and Anophthalmia, sponsored by National Eye Institute (NEI).
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. According to ClinicalTrials.gov, the official US trial registry.
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.
Primary Outcome
The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.
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 |
What NCT01778543 shows while recruiting
NCT01778543 is an observational study that tracks outcomes without assigning an intervention. The registered 600 participants enrollment target is mid-sized for trials with a published cap.
The record links to 3 conditions, with Coloboma appearing as the primary indexed condition, and to 0 interventions.
NCT01778543 reports a single indexed study location in 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.
Learn More About Clinical Trials
Similar trials for Coloboma
Matched on the same primary condition, ranked to surface studies in the same phase first, then by recruiting status, no relevance scoring or editorial curation.
Nationwide trials with similar profiles
Cross-condition peers matched on enrollment target and registry start date, not the same-condition list above.
Similar enrollment target
- NCT00004317 · 600 participants · Phase 4
Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis
- NCT00209235 · 600 participants · NA
Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
- NCT01473784 · 600 participants · NA
Transoral Robotic Surgery in Treating Patients With Benign or Malignant Tumors of the Head and Neck
- NCT01866371 · 600 participants
High Resolution Retinal Imaging
Similar registry start date
- NCT05962346 · started 2026-12 · NA
Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia
- NCT07125183 · started 2026-12 · Phase 2
Study on Efficacy and Tolerability of Weekly Doxorubicin in Elderly Patients With Advanced or Metastatic Leiomyosarcoma
- NCT07292298 · started 2026-11 · Phase 2
Phase 2 Single-Arm Rectal Cancer Brachytherapy for Patients With Low-Lying Residual Adenocarcinoma After Total Neoadjuvant Therapy to Improve Organ Preservation Rates
- NCT04263285 · started 2026-10 · NA
Treatment of Depression Post-SCI