Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children

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

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Microphthalmia Anophthalmia Anophthalmos Coloboma Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Abnormalities Eye Diseases Eye Diseases, Hereditary Microphthalmos

Sex eligibility

All sexes

Study type

Observational

Primary location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location status: Recruiting

Location contact

EpiCenter

CONTACT

[email protected]

713-798-2920

Philip Lupo, PhD, MPH

PRINCIPAL_INVESTIGATOR

About this study

This study is focused on gathering data on individuals diagnosed with some of the more common visually threatening congenital eye defects collectively referred to as MAC complex; anophthalmia (total absence of the globe), microphthalmia (anomalously small eye in the orbit), and coloboma (failure of the closure of the fetal fissure).

Our long-term goal is to improve prevention efforts for and clinical management of MAC. The objectives of the current study are to 1) better define the MAC phenotype and 2) characterize the role of known and newly identified pathogenic genetic variants that confer MAC susceptibility.

To do this, the investigators are leveraging resources to identify MAC cases through the Texas Birth Defects Registry (TBDR), Texas Children's Hospital (TCH), and through direct referrals from our study partners. The investigators intend to conduct secondary analyses by leveraging the existing collaborative relationship with the New York State Newborn Screening Program (NYSNSP). Also, the investigators are utilizing the resources of the National Institutes of Health (NIH) Clinical Center to comprehensively phenotype cases with MAC, and the National Eye Institute (NEI) Ophthalmic Genomics Laboratory to identify genetic variants underlying MAC phenotypes.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

All MAC cases
Parents of the above children.
Siblings of the above children.
English or Spanish speaking.

Exclusion criteria

All subjects who do not meet the inclusion criteria listed above.

Treatment and study plan

Primary outcomes

Stage 1

Time frame: End of study, on or before 12/31/2032

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.
Stage 2

Time frame: End of study, on or before 12/31/2032

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.
Stage 3

Time frame: End of study, on or before 12/31/2032

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.

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Collaborators

National Eye Institute (NEI)
National Institutes of Health (NIH)

Registry information

Acronym: MAGIC

Important dates

Study start: 2022
Primary completion: 2027
Study completion: 2027
First posted: Mar 5, 2024
Registry last updated: May 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting