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Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)

StatusRecruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

The 50 most recent of 326 record versions are accounted for below. See every version on ClinicalTrials.gov ↗

  1. Re-verified, no change to tracked fields
  2. Re-verified, no change to tracked fields
  3. Re-verified, no change to tracked fields
  4. Eligibility criteria expanded, about 10 words
  5. 12 versions Re-verified since Jun 17, 2026, no change to tracked fieldsv311-v322
Show 34 earlier versionsHide 34 earlier versions
  1. Study Status, Eligibilityv310
  2. 33 versions Re-verified since Apr 18, 2025, no change to tracked fieldsv277-v309
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.
Trial Details
NCT Number NCT01778543
Lead Sponsor National Eye Institute (NEI)
Conditions
(from sponsor)		 Coloboma, Anophthalmia, Microphthalmia
Related terms Anophthalmos, Coloboma, Microphthalmos
Enrollment 600 participants
Start Date
Primary Completion (estimated)
Updated on ClinicalTrials.gov