NCT02471287

Genetics of Inherited Eye Disease

Recruiting now Last updated 2 October 2025

What this trial tests

trial in Genetic Eye Disease in 1,500 participants. Currently enrolling.

Timeline

22 June 2015

Primary endpoint
1 September 2030

1 September 2030

Quick facts

Lead sponsor	National Eye Institute (NEI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	1,500
Start date	22 June 2015
Primary completion	1 September 2030
Estimated completion	1 September 2030
Sites	1 location across United States

Conditions studied

• Genetic Eye Disease — all drugs for Genetic Eye Disease →

Sponsor

National Eye Institute (NEI)

Who can join

Adults 1 to 120, any sex, with Genetic Eye Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes.

Objective:

To learn more about genes involved in eye diseases.

Eligibility:

People who have a known or suspected inherited eye disease, and their relatives.

Design:

* All participants will have a medical history, physical exam, and eye exam. They will have blood taken.
* Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure.
* Participants may have a skin biopsy. A 3mm piece of skin will be removed.
* Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells.
* Participants may have a retina test. They may also have a test that uses light to measure retina thickness.
* Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes.
* Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels.
* Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light.
* Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.
* Participants may complete a color vision test.
* Participants will provide a specimen for genetic testing.
* Participants may have a MRI.
* Participants may complete questionnaires.

Publications & conference data

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

1. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
   Huryn LA, Kozycki CT, Serpen JY, Zein WM, et al · · 2023 · cited 24× · PMID 36332842 · DOI 10.1016/j.ophtha.2022.10.026
2. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
   Schiff ER, Daich Varela M, Robson AG, Pierpoint K, et al · · 2020 · cited 22× · PMID 32770643 · DOI 10.1002/ajmg.c.31822
3. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
   Pfister TA, Zein WM, Cukras CA, Sen HN, et al · · 2021 · cited 15× · PMID 34015078 · DOI 10.1167/iovs.62.6.22
4. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
   Daich Varela M, Jani P, Zein WM, D'Souza P, et al · · 2020 · cited 14× · PMID 32866347 · DOI 10.1002/ajmg.c.31823
5. Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
   Zernant J, Lee W, Wang J, Goetz K, et al · · 2022 · cited 11× · PMID 35353811 · DOI 10.1371/journal.pgen.1010129
6. In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7.
   Parker JA, Merchant SH, Attaripour-Isfahani S, Cho HJ, et al · · 2021 · cited 6× · PMID 33516934 · DOI 10.1016/j.nicl.2021.102561
7. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
   Bender C, Woo EG, Guan B, Ullah E, et al · · 2022 · cited 3× · PMID 35456481 · DOI 10.3390/genes13040675
8. Statistical Evaluation of ERG Responses: A New Method to Validate Cycle-by-Cycle Recordings in Advanced Retinal Degenerations.
   Fadda A, Martelli F, Zein WM, Jeffrey B, et al · · 2024 · cited 1× · PMID 38558093 · DOI 10.1167/iovs.65.4.3