Genetic Eye DiseaseNCT02471287
Genetics of Inherited Eye Disease
An observational study of Genetic Eye Disease, run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 year to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Eye Disease
- How many people
- 1,500 participants
- Where
- 1 siteUnited States
- Study dates
- 22 Jun 2015to 1 Sep 2030
- 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 1 year to 120 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: A total of 1500 participants may be enrolled into this study. One thousand one-hundred (1,100) participants with known or suspected eye diseases and 400 healthy volunteers (unaffected relatives of affected participants) will be accrued for this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.
Who may be able to join
- Participants will be eligible if they:
- Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
- Have the ability to cooperate with an age-appropriate eye exam.
- Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able
- to provide consent.
Who cannot join
- Participants will not be eligible if:
- They are unwilling or unable to be followed as clinically indicated.
- They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
- Their participation would not contribute to the NEI research mission, at the discretion of the PI.
- Participants will not be eligible for optional MRI procedure if:
- They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
- They have claustrophobia and would feel uncomfortable in the MRI machine.
- They are not able to lie comfortably on their back for up to one (1) hour.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 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. TTY dial 711, ccopr@nih.gov
About this study
Official title: The Genetics of Inherited Eye Disease
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.
Read more
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.
Read the detailed description
OBJECTIVE:
Molecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understanding of the genetics and molecular pathogenesis of vision-threatening disease. In addition, in order to determine whether an intervention is therapeutic, we must first have some understanding of what the best clinical outcome variables are for measuring a treatment effect. Because our ultimate goal is to develop disease-specific protocols for specific inherited conditions, establishing this protocol will help us establish an initial critical mass of patients and of knowledge to write such protocols; as such, this protocol will be hypothesis generating. A secondary aim of this protocol is to provide a mechanism for obtaining research samples from subjects that may be used for laboratory investigations; in this case, the basic research may be both hypothesis generating and/or hypothesis testing. Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical training program, should have the ability to serve as a tertiary referral center for the nation in the area of undiagnosed genetic eye diseases.
STUDY POPULATION:
One thousand one hundred (1100) individuals with inherited eye diseases and 400 healthy volunteers (the unaffected relatives of affected participants) will be enrolled.
DESIGN:
This is a combined evaluation/treatment protocol and a genetic repository study. In general, participants will undergo a complete, age-appropriate, baseline examination and may provide a blood or saliva sample. Some participants may undergo more specialized ophthalmic and/or systemic testing, if clinically indicated by the investigator. Data and specimens generated through clinical care procedures may be collected and analyzed. The data and images obtained from these tests may be used for determining eligibility into another NEI protocol. Additionally, the collection of these data will help meet the primary research objectives of this study. Participants may be asked to complete optional participant reported outcome (PRO) questionnaires which will be assigned based on current diagnosis and previous testing. In a small number of cases, collection of blood, readily available biospecimens and body fluids (e.g., urine, saliva, tear fluid, stool, hair or cheek swab samples), conjunctival swab or lacrimal gland biopsy, impression cytology, and/or a punch skin biopsy may also be performed for research purposes.
OUTCOME MEASURES:
Given the breadth of ages and disease processes covered under this protocol, we will not systematically obtain any single outcome variable beyond visual acuity on research subjects. However, detailed, disease-specific findings will be collected through the NEI electronic medical record. Findings from systemic testing and from outside exams may be tabulated in a separate, secure database in the laboratory of the Principal Investigator (PI).
- Conditions
- Genetic Eye Disease
- Keywords
- Rare, Ocular
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 |
|---|---|---|
| Affected Participants | Participants with eye disease | |
| Healthy volunteers | Unaffected first degree relatives of participants with a known or suspected inherited eye disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish cohort
Establish an initial "critical mass" of participants and knowledge to develop disease-specific protocols for specific inherited eye conditions.
Measured: Ongoing
Secondary outcomes (4)
Suggest best clinical outcome measures
Suggesting the best clinical outcome measures to follow patients with various inherited eye diseases
Measured: ongoing
Revealing systematic comorbidities
Revealing systemic comorbidities that occur in patients with various inherited eye diseases.
Measured: ongoing
Provide a mechanism for collecting biological samples
Provide a mechanism for collecting biological samples from well-phenotyped subjects for basic laboratory research
Measured: ongoing
Determine the genetic cause(s) and molecular pathogenesis
Determine the genetic causes(s) and molecular pathogenesis of a known or suspected inherited disorder of vision in an individual patient and his/her family.
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jun 2015 (estimated)
- Study start22 Jun 2015
- Primary completion1 Sep 2030 (estimated)
- Study completion1 Sep 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Genetic 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
- Prospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Laryssa A Huryn, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02471287
- Sponsor's protocol ID
- 150128
- Other IDs
- 15-EI-0128
- Status last verified
- 11 Sep 2026
- First submitted
- 12 Jun 2015
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 Apr 12;13(4):675. doi: 10.3390/genes13040675.
PubMed 35456481
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Genetics of Inherited Eye Disease
- ClinicalTrials.gov ID
- NCT02471287
- Acronym / sponsor ID
- 150128
- Conditions
- Genetic Eye Disease
- Keywords
- Rare, Ocular
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 22 Jun 2015 (actual)
- Primary completion
- 1 Sep 2030 (estimated)
- Study completion
- 1 Sep 2030 (estimated)
- First posted
- 15 Jun 2015 (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:
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.
Detailed description
OBJECTIVE:
Molecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understanding of the genetics and molecular pathogenesis of vision-threatening disease. In addition, in order to determine whether an intervention is therapeutic, we must first have some understanding of what the best clinical outcome variables are for measuring a treatment effect. Because our ultimate goal is to develop disease-specific protocols for specific inherited conditions, establishing this protocol will help us establish an initial critical mass of patients and of knowledge to write such protocols; as such, this protocol will be hypothesis generating. A secondary aim of this protocol is to provide a mechanism for obtaining research samples from subjects that may be used for laboratory investigations; in this case, the basic research may be both hypothesis generating and/or hypothesis testing. Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical training program, should have the ability to serve as a tertiary referral center for the nation in the area of undiagnosed genetic eye diseases.
STUDY POPULATION:
One thousand one hundred (1100) individuals with inherited eye diseases and 400 healthy volunteers (the unaffected relatives of affected participants) will be enrolled.
DESIGN:
This is a combined evaluation/treatment protocol and a genetic repository study. In general, participants will undergo a complete, age-appropriate, baseline examination and may provide a blood or saliva sample. Some participants may undergo more specialized ophthalmic and/or systemic testing, if clinically indicated by the investigator. Data and specimens generated through clinical care procedures may be collected and analyzed. The data and images obtained from these tests may be used for determining eligibility into another NEI protocol. Additionally, the collection of these data will help meet the primary research objectives of this study. Participants may be asked to complete optional participant reported outcome (PRO) questionnaires which will be assigned based on current diagnosis and previous testing. In a small number of cases, collection of blood, readily available biospecimens and body fluids (e.g., urine, saliva, tear fluid, stool, hair or cheek swab samples), conjunctival swab or lacrimal gland biopsy, impression cytology, and/or a punch skin biopsy may also be performed for research purposes.
OUTCOME MEASURES:
Given the breadth of ages and disease processes covered under this protocol, we will not systematically obtain any single outcome variable beyond visual acuity on research subjects. However, detailed, disease-specific findings will be collected through the NEI electronic medical record. Findings from systemic testing and from outside exams may be tabulated in a separate, secure database in the laboratory of the Principal Investigator (PI).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected Participants | – | –Participants with eye disease |
| Healthy volunteers | – | –Unaffected first degree relatives of participants with a known or suspected inherited eye disease. |
Who may qualify
- Ages
- 1 year to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A total of 1500 participants may be enrolled into this study. One thousand one-hundred (1,100) participants with known or suspected eye diseases and 400 healthy volunteers (unaffected relatives of affected participants) will be accrued for this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.
Key inclusion criteria (5 listed)
- Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
- Have the ability to cooperate with an age-appropriate eye exam.
- Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able
- to provide consent.
Key exclusion criteria (8 listed)
- They are unwilling or unable to be followed as clinically indicated.
- They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
- Their participation would not contribute to the NEI research mission, at the discretion of the PI.
- They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
- They have claustrophobia and would feel uncomfortable in the MRI machine.
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
Establish cohort
Time frame: Ongoing
Establish an initial "critical mass" of participants and knowledge to develop disease-specific protocols for specific inherited eye conditions.
4 secondary outcomes
Suggest best clinical outcome measures
Time frame: ongoing
Revealing systematic comorbidities
Time frame: ongoing
Provide a mechanism for collecting biological samples
Time frame: ongoing
Determine the genetic cause(s) and molecular pathogenesis
Time frame: ongoing
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 29 Oct 2026.
- Derived from this study: PubMed 35456481Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 Apr 12;13(4):675. doi: 10.3390/genes13040675.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Genetic Eye Disease
Active, not recruitingPhase 3
Descemet Endothelial Thickness Comparison Trial II
Fuchs, Fuchs Dystrophy
RecruitingObservational study
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Inherited Ophthalmic Diseases, Hypopigmentation Disorder
RecruitingObservational study
Rod and Cone Mediated Function in Retinal Disease
Retinal Degeneration, Retinitis Pigmentosa
RecruitingObservational study
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Familial Mediterranean Fever (FMF), Autoinflammation
RecruitingObservational study
Clinical and Molecular Studies in Families With Inherited Eye Disease
Inherited Eye Disease
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.
Laryssa A Huryn, M.D. principal investigator
National Eye Institute (NEI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Eye Disease, run by National Eye Institute (NEI) at 1 site in United States.
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 8 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 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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 Daniel W Claus, R.N. ((301) 451-1621, daniel.claus@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establish cohort (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02471287, which also lists 1 linked publication.
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 29 Oct 2026.