Inherited Eye DiseaseNCT02771236
Clinical and Molecular Studies in Families With Inherited Eye Disease
An observational study of Inherited Eye Disease, run by National Eye Institute (NEI) at 10 sites in 8 countries.
Trial summary
Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Read more about this study
- Who is it for?
- Ages 4 to 120 years
- Conditions the study is for
- Inherited Eye Disease
- How many people
- 5,000 participants
- Where
- 10 sitesin 8 countries
- Study dates
- 4 Oct 2016to 1 Jan 2032
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 120 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants with inherited eye diseases.
Who may be able to join
- To be eligible, the following inclusion criteria must be met, where applicable;
- Participant must be four years of age or older.
- Participant must understand and sign the protocol s informed consent document.
- Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
- All participants must be able to cooperate with study examination and phlebotomy.
Who cannot join
- A participant is not eligible if any of the following exclusion criteria are present:
- Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
- Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
- Participant requires sedation for study purposes.
Trial locations and contacts
10 sites in 8 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 8 countries
United States3 sites, 2 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
- Withdrawn
Duke University Eye Center
Durham, North Carolina, 27708
- Recruiting
University of California, San Diego
La Jolla, California, 92093-0603
Radha Ayyagari, Ph.D., 858-534-9029, rayyagari@ucsd.edu
China1 site, 1 recruiting
- Recruiting
Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University
Guangzhou
Pakistan1 site
- Suspended
National Centre of Excellence in Molecular Biology, University of the Punjab
Lahore, 53700
Philippines1 site, 1 recruiting
- Recruiting
University of the Philippines
Manila, 4031
Leo Cubillan, M.D., 63-2-5247119, lcubillan@upm.edu.ph
Ukraine1 site, 1 recruiting
- Recruiting
The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy
Odesa, 6500
About this study
Background:
Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.
Read more
Objective:
To try to identify the genes linked to the development of inherited eye diseases.
Eligibility:
People ages 4 and older who have or have a family member with an inherited eye disease
Design:
Participants will be screened with medical history and medical records.
Participants will have one visit that will take 3-4 hours. This will include:
Medical and family history
Eye exam: This includes the pupil being dilated.
Electroretinography: A small electrode is taped to the forehead. Participants sit in the
dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in
the eyes. They will watch flashing lights.
Blood tests
Saliva sample: They will spit into a container or have the inside of their cheek swabbed.
Genetic testing will be done on participants blood or saliva.
Participants may meet with the researchers to discuss their genetic tests.
Read the detailed description
Objective: This project, Clinical and Molecular Studies in Families with Inherited Eye Disease will study inherited eye diseases, both Mendelian and complex age related inherited eye diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause inherited eye diseases and the pathophysiology through which they act. Among the diseases studied will be cataracts, corneal dystrophies and other corneal diseases, retinal degenerations, myopia and other anterior chamber defects, and glaucoma.
Study Population: Families and individuals of many nationalities and ethnic backgrounds. We will study a maximum of 5,000 participants and family members.
Design: The study consists of ascertaining individuals and especially families with multiple individuals, affected by both congenital and age-related inherited eye diseases. These participants and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family. Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified, or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis. If necessary, the gene product will be characterized biochemically. Blood samples may also be used to complete analyses such as: hemoglobin A1c (HbA1c), fasting blood glucose, and glucose tolerance tests. The study will enroll participants at NEI and collaborating institutions.
Outcome Measures: Linkage will be determined using the lod score method, association will be determined using standard statistical procedures to estimate p values, and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, bioinformatic prediction of structural damage to the protein, and molecular modeling. Assessment of biochemical, metabolic, and physiological effects of these mutations will be individualized to the specific case.
- Conditions
- Inherited Eye Disease
- Keywords
- Genetics, Natural History
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with cataracts | Participants with cataracts | |
| Participants with corneal dystrophies | Participants with corneal dystrophies | |
| Participants with glaucoma | Participants with glaucoma or other anterior chamber anomalies | |
| Participants with lens refractive errors | Participants with lens refractive errors including myopia and hyperopia | |
| Participants with retinal degenerations | Participants with retinal degenerations |
What is being measured
The primary outcome is the main question the study is designed to answer.
Document the clinical and genetic features of Mendelian and age related visual disorders
Provide improved diagnosis and categorization of inherited visual disorders and should eventually suggest rationales for prevention or delay of both Mendelian and complex eye diseases
Measured: Study duration
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2016 (estimated)
- Study start4 Oct 2016
- Primary completion1 Jan 2032 (estimated)
- Study completion1 Jan 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Eye DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 5,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- James F Hejtmancik, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02771236
- Sponsor's protocol ID
- 160104
- Other IDs
- 16-EI-0104
- Status last verified
- 2 Jun 2026
- First submitted
- 12 May 2016
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Studies in Families With Inherited Eye Disease
- ClinicalTrials.gov ID
- NCT02771236
- Acronym / sponsor ID
- 160104
- Conditions
- Inherited Eye Disease
- Keywords
- Genetics, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 4 Oct 2016 (actual)
- Primary completion
- 1 Jan 2032 (estimated)
- Study completion
- 1 Jan 2032 (estimated)
- First posted
- 13 May 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.
Objective:
To try to identify the genes linked to the development of inherited eye diseases.
Eligibility:
People ages 4 and older who have or have a family member with an inherited eye disease
Design:
Participants will be screened with medical history and medical records.
Participants will have one visit that will take 3-4 hours. This will include:
Medical and family history
Eye exam: This includes the pupil being dilated.
Electroretinography: A small electrode is taped to the forehead. Participants sit in the
dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in
the eyes. They will watch flashing lights.
Blood tests
Saliva sample: They will spit into a container or have the inside of their cheek swabbed.
Genetic testing will be done on participants blood or saliva.
Participants may meet with the researchers to discuss their genetic tests.
Detailed description
Objective: This project, Clinical and Molecular Studies in Families with Inherited Eye Disease will study inherited eye diseases, both Mendelian and complex age related inherited eye diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause inherited eye diseases and the pathophysiology through which they act. Among the diseases studied will be cataracts, corneal dystrophies and other corneal diseases, retinal degenerations, myopia and other anterior chamber defects, and glaucoma.
Study Population: Families and individuals of many nationalities and ethnic backgrounds. We will study a maximum of 5,000 participants and family members.
Design: The study consists of ascertaining individuals and especially families with multiple individuals, affected by both congenital and age-related inherited eye diseases. These participants and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family. Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified, or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis. If necessary, the gene product will be characterized biochemically. Blood samples may also be used to complete analyses such as: hemoglobin A1c (HbA1c), fasting blood glucose, and glucose tolerance tests. The study will enroll participants at NEI and collaborating institutions.
Outcome Measures: Linkage will be determined using the lod score method, association will be determined using standard statistical procedures to estimate p values, and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, bioinformatic prediction of structural damage to the protein, and molecular modeling. Assessment of biochemical, metabolic, and physiological effects of these mutations will be individualized to the specific case.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| Participants with cataracts | – | –Participants with cataracts |
| Participants with corneal dystrophies | – | –Participants with corneal dystrophies |
| Participants with glaucoma | – | –Participants with glaucoma or other anterior chamber anomalies |
| Participants with lens refractive errors | – | –Participants with lens refractive errors including myopia and hyperopia |
| Participants with retinal degenerations | – | –Participants with retinal degenerations |
Who may qualify
- Ages
- 4 to 120 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants with inherited eye diseases.
Key inclusion criteria (5 listed)
- To be eligible, the following inclusion criteria must be met, where applicable;
- Participant must be four years of age or older.
- Participant must understand and sign the protocol s informed consent document.
- Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
- All participants must be able to cooperate with study examination and phlebotomy.
Key exclusion criteria (4 listed)
- Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
- Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
- Participant requires sedation for study purposes.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Document the clinical and genetic features of Mendelian and age related visual disorders
Time frame: Study duration
Provide improved diagnosis and categorization of inherited visual disorders and should eventually suggest rationales for prevention or delay of both Mendelian and complex eye diseases
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
James F Hejtmancik, M.D. principal investigator
National Eye Institute (NEI)
10 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Eye Disease, run by National Eye Institute (NEI) at 10 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, China, India, Italy, Pakistan and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact James F Hejtmancik, M.D. ((301) 435-1598, f3h@helix.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Document the clinical and genetic features of Mendelian and age related visual disorders (time frame: Study duration). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.