Clinical trial NCT06293560: Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Official title: Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Microphthalmia
Coloboma
Anophthalmia
Lead sponsor: Baylor College of Medicine
Sponsor class: OTHER
Collaborators: name: National Eye Institute (NEI)
name: National Institutes of Health (NIH)
First posted: 2024-03-05
Enrollment: 3000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children diagnosed with congenital microphthalmia, anophthalmia, or coloboma (without a recognized syndrome).

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

Detailed description: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Stage 1
timeFrame: End of study, on or before 12/31/2032
measure: Stage 2
timeFrame: End of study, on or before 12/31/2032
measure: Stage 3
timeFrame: End of study, on or before 12/31/2032
Secondary outcomes:
Other outcomes:
Locations:
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
Study officials:
References:
citation: Langlois PH, Marengo L, Lupo PJ, Drummond-Borg M, Agopian AJ, Nembhard WN, Canfield MA. Evaluating the proportion of isolated cases among a spectrum of birth defects in a population-based registry. Birth Defects Res. 2023 Jan 1;115(1):21-25. doi: 10.1002/bdr2.1990. Epub 2022 Feb 26.
citation: Selzer EB, Blain D, Hufnagel RB, Lupo PJ, Mitchell LE, Brooks BP. Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022 Jul-Aug;67(4):1031-1047. doi: 10.1016/j.survophthal.2021.12.008. Epub 2021 Dec 31.
citation: Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, Agopian AJ, Lupo PJ. A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 Oct;28(5):428-435. doi: 10.1080/09286586.2020.1862244. Epub 2020 Dec 20.