Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorBaylor College of Medicine
About this trial
The investigators are inviting families to take part in a research study that will help us better understand the physical characteristics associated with children who have Microphthalmia, Anophthalmia, and Coloboma (MAC) and how changes in their DNA sequence, called genetic mutations, play a role in the risk of developing MAC
Eligibility criteria
This trial accepts healthy volunteersQualifiers
All MAC cases
Parents of the above children.
Siblings of the above children.
English or Spanish speaking.
Disqualifiers
None
Trial population
Children diagnosed with congenital microphthalmia, anophthalmia, or coloboma (without a recognized syndrome).
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Stage 1
We are conducting interviews to collect detailed pregnancy, medical and family histories; review medical records to identify cases with chromosomal abnormalities or other syndromic diagnosis (that were not identified by the TBDR) and associated malformations, as well as to assess clinical course; and collect saliva samples that may be used to extract DNA to be analyzed for genetic mutations.
Time frame
End of study, on or before 12/31/20322
Stage 2
We are also conducting in-person, virtual, or remote physical assessments to obtain detailed phenotypic information including three-dimensional (3D) digital imaging to capture facial phenotype of cases and their parents. We also collect blood samples during this stage.
Time frame
End of study, on or before 12/31/20323
Stage 3
We are working closely with collaborators at the NIH Clinical Center to conduct deep phenotyping of children with MAC, who do not have a diagnosed syndrome, as well as their first-degree family members. This may include complete eye examinations, neuropsychological testing, hearing evaluation, additional facial imaging, echocardiograms, and magnetic resonance imaging (MRI) of the brain.
Time frame
End of study, on or before 12/31/2032Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Baylor College of Medicine
Lead sponsor
National Eye Institute (NEI)
Collaborator
National Institutes of Health (NIH)
Collaborator
Source ClinicalTrials.gov