NCT00368004

Family Studies of Uveal Coloboma

Terminated Last updated 17 December 2019

What this trial tests

trial in Coloboma in 100 participants. Terminated before completion.

Timeline

28 July 2006

15 April 2013

Quick facts

Lead sponsor	National Eye Institute (NEI)
Status	Terminated
Study type	OBSERVATIONAL
Enrollment	100
Start date	28 July 2006
Estimated completion	15 April 2013
Sites	1 location across United States

Conditions studied

• Coloboma — all drugs for Coloboma →

Sponsor

National Eye Institute (NEI)

Who can join

Under 100, any sex, with Coloboma. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder.

Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated.

To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.

Publications & conference data

4 peer-reviewed publications reference this trial (live from Europe PMC):

1. High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
   Kalaskar VK, Alur RP, Li LK, Thomas JW, et al · · 2020 · cited 19× · PMID 31816153 · DOI 10.1002/humu.23954
2. Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
   Boobalan E, Thompson AH, Alur RP, McGaughey DM, et al · · 2022 · cited 15× · PMID 36326727 · DOI 10.1167/iovs.63.12.5
3. Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
   Huynh N, Blain D, Glaser T, Doss EL, et al · · 2013 · cited 13× · PMID 24012100 · DOI 10.1016/j.ajo.2013.06.037
4. The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.
   Brooks BP, Hehn AT, Blain D, Farmer C, et al · · 2026 · PMID 41248874 · DOI 10.1016/j.ajo.2025.11.011