Recruiting

Genetic Mutations

Sponsor:

Baylor College of Medicine

Code:

NCT06293560

Conditions

Microphthalmia

Coloboma

Anophthalmia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

Conditions

Microphthalmia

Coloboma

Anophthalmia

Study ID

NCT06293560

Start date

Sep 25, 2022

Status verified date

Apr, 2026

Completion date

Sep, 2027

Anticipated

Primary completion date

Sep, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

1. All MAC cases
2. Parents of the above children.
3. Siblings of the above children.
4. English or Spanish speaking.

Exclusion Criteria:

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

Study Design

Enrollment

3000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Stage 1 [ Time Frame: End of study, on or before 12/31/2032 ]
  • Stage 2 [ Time Frame: End of study, on or before 12/31/2032 ]
  • Stage 3 [ Time Frame: End of study, on or before 12/31/2032 ]

Central Contacts and Locations

Locations

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

EpiCenter

713-798-2920epicenter@bcm.edu

Principal Investigator:

Philip Lupo, PhD, MPH

More Information

Sponsor

Baylor College of Medicine

Last update posted

May 6, 2026

Last verified

Apr, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2026-05-06.