Retinitis PigmentosaNCT03845218
Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures
An observational study of Retinitis Pigmentosa, run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
Background: Retinitis pigmentosa (RP) is a group of blinding eye diseases. It is caused mostly by mutations in photoreceptor-expressed genes. RP affects about 2 million people globally. There is no cure, but treatment and diagnosis can be guided by certain tests. Read more about this study
- Who is it for?
- Ages 12 to 100 years
- Conditions the study is for
- Retinitis Pigmentosa
- How many people
- 49 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Sep 2019to 19 Jul 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 12 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Up to 120 participants aged 12 or older with a diagnosis of RP. Up to 30 healthy volunteers.@@@@@@
Who may be able to join
- To be eligible, the following inclusion criteria must be met, where applicable.
- Participant must be 12 years of age or older.
- Participant (or legal guardian) must understand and sign the protocol s informed consent document.
- Participant must have evidence of RP as defined by characteristic ERG responses, visual fields, clinical exam and /or genetic testing.
- To be eligible, the following inclusion criteria must be met:
- Participant must be 18 years of age or older.
- Participant must understand and sign the protocol s informed consent document.
- Participant must not have evidence of RP.
Who cannot join
- A participant is not eligible if any of the following exclusion criteria are present.
- Participant is actively receiving study therapy in another investigational study.
- Participant is started on (or changed dosage of) topical or systemic carbonic anhydrase inhibitor (CAI) treatment in the three months prior to enrollment.
- Participant is expected to be unable to comply with study procedures or follow-up visits.
- Participant has evidence of an ocular disease other than RP in either eye that may confound the outcome of the study (e.g., diabetic retinopathy with ten or more hemorrhages or microaneurysms, uveitis, pseudovitelliform macular degeneration, severe myopia).
- Participant is taking ocular or systemic medications known to be toxic to the lens, retina or optic nerve (e.g., ethambutol, chloroquine, or hydroxychloroquine).
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- Participant has a condition that would preclude participation in the study (e.g., unstable medical status including blood pressure and glycemic control) by interfering with the participant s ability to engage in the required protocol evaluation and testing and/or comply with study visits.
- Participant is an NIH employee associated with this study.
- Participant is unable or unwilling to give informed consent that includes use of medical records and clinical samples for current and future research.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: A Survey Study of Retinitis Pigmentosa (RP) Clinical Measures and Repeatability Testing of Potential Outcome Measures.
Background:
Retinitis pigmentosa (RP) is a group of blinding eye diseases. It is caused mostly by mutations in photoreceptor-expressed genes. RP affects about 2 million people globally. There is no cure, but treatment and diagnosis can be guided by certain tests. Researchers want to see how well these tests capture stages of RP.
Read more
Objectives:
To find out how well certain tests track changes in retinitis pigmentosa.
Eligibility:
People ages 12 and older with RP
Healthy volunteers ages 18 and older with no evidence of RP
Design:
Participants will be screened in another protocol.
Participants will have 2 visits about 6 weeks apart. Both will include all the tests below. Each visit will last 5-6 hours, or a visit can be split into 2 days.
Participants will give their medical and eye history.
Participants will have an eye exam. Their pupils will be dilated with eye drops.
Participants will give blood samples.
Pictures of participants retinas will be taken. Their retinas will be measured.
Participants will take several eye tests. They will:
Sit in a dark room and press a button when they see lights.
View a bright background then press a button when they see lights.
Look into a bowl and press a button when they see lights.
Sit in the dark with their eyes patched. Then they will take eye-numbing drops and wear contacts as lights flash. A small electrode taped to their forehead will record signals from their retinas.
Minors will give written consent to stay in the study when they turn 18. After the study ends, they may also be asked to give consent for researchers to continue to use their study information.
Read the detailed description
Precis
Objective: The objective of this study is to investigate the nature of photoreceptor dysfunction in retinitis pigmentosa (RP) patients using focal static and kinetic psychophysical tests to develop functional outcome measures for the clinical trial study in RP. Correlation of novel spatial functional maps with other functional measures (such as visual acuity and multifocal electroretinography) will help provide a full description of functional change. Employing new imaging methods to visualize and analyze structural changes in the retina will allow for the evaluation of structural changes that underlie disease progression. Developing these measures has the potential to advance the field by elucidating the process of photoreceptor degeneration as well as being a scaffold for which candidate therapies could be trialed.
Study Population: Up to 120 participants with a diagnosis of RP will be enrolled. Up to
30 healthy volunteers will also be enrolled for a total accrual ceiling of 150.
Design: This is a single center, observational, cross-sectional repeatability study of patients with retinitis pigmentosa. The goal of Aim 1 is to identify measures that could be used in future studies to track the extent of functional retina over time. The goal of Aim 2 is to evaluate structural measures for RP. The goal of Aim 3 is to assess the participant s performance on questionnaires assessing visual function. The goal of Aim 4 is to survey the cytokine/lymphokine profile.
Outcome Measures: The primary outcome measure will be the limits of agreement in repeatability calculations of the tests performed. Secondary outcome measures will include analysis of parameter testing based on severity groups. Macular thickness as measured by optical coherence tomography (OCT), as well as ellipsoid zone band length will be quantified. Functional testing with photopic perimetry and scoptopic perimetry and kinetics will be quantified. Multifocal electroretinography (mfERG) will be analyzed by subfield and possible ring analyses. Correlations of questionnaire scores with objective measures will be analyzed.
- Conditions
- Retinitis Pigmentosa
- Keywords
- Retina, Imaging, Psychophysics, Functional Outcome Measures, Natural History
- Medical subject headings
- Retinitis Pigmentosa
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 |
|---|---|---|
| Healthy Controls | Participants without RP | |
| Participants with RP | Participants must have evidence of RP as defined by characteristic ERG responses, visual fields, clinical exam and/or genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Macular thickness as measured by OCT, EZ band length; functional testing including photopic/scotopic perimetry and kinetics, mfERG
The primary outcome measure will be the limits of agreement in repeatability calculations of the tests performed.
Measured: ongoing
Secondary outcomes (1)
Secondary outcome measures will include analysis of parameter testing based on absolute measures to categorize testing results into severity groups
Information about which tests did not yield quantifiable measures in which participants will also be collected.
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Feb 2019
- Study start27 Sep 2019
- Primary completion19 Jul 2023
- Study completion19 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis PigmentosaStudies 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 49 participants (actual)
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
- NCT03845218
- Sponsor's protocol ID
- 190056
- Other IDs
- 19-EI-0056
- Status last verified
- 15 Sep 2026
- First submitted
- 16 Feb 2019
- Last updated
- 17 Sep 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 17 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Survey Study of Retinitis Pigmentosa (RP) Clinical Measures and Repeatability Testing of Potential Outcome Measures.
- ClinicalTrials.gov ID
- NCT03845218
- Acronym / sponsor ID
- 190056
- Conditions
- Retinitis Pigmentosa
- Keywords
- Retina, Imaging, Psychophysics, Functional Outcome Measures, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 49 participants (actual)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 27 Sep 2019 (actual)
- Primary completion
- 19 Jul 2023 (actual)
- Study completion
- 19 Jul 2023 (actual)
- First posted
- 19 Feb 2019 (actual)
- 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:
Retinitis pigmentosa (RP) is a group of blinding eye diseases. It is caused mostly by mutations in photoreceptor-expressed genes. RP affects about 2 million people globally. There is no cure, but treatment and diagnosis can be guided by certain tests. Researchers want to see how well these tests capture stages of RP.
Objectives:
To find out how well certain tests track changes in retinitis pigmentosa.
Eligibility:
People ages 12 and older with RP
Healthy volunteers ages 18 and older with no evidence of RP
Design:
Participants will be screened in another protocol.
Participants will have 2 visits about 6 weeks apart. Both will include all the tests below. Each visit will last 5-6 hours, or a visit can be split into 2 days.
Participants will give their medical and eye history.
Participants will have an eye exam. Their pupils will be dilated with eye drops.
Participants will give blood samples.
Pictures of participants retinas will be taken. Their retinas will be measured.
Participants will take several eye tests. They will:
Sit in a dark room and press a button when they see lights.
View a bright background then press a button when they see lights.
Look into a bowl and press a button when they see lights.
Sit in the dark with their eyes patched. Then they will take eye-numbing drops and wear contacts as lights flash. A small electrode taped to their forehead will record signals from their retinas.
Minors will give written consent to stay in the study when they turn 18. After the study ends, they may also be asked to give consent for researchers to continue to use their study information.
Detailed description
Precis
Objective: The objective of this study is to investigate the nature of photoreceptor dysfunction in retinitis pigmentosa (RP) patients using focal static and kinetic psychophysical tests to develop functional outcome measures for the clinical trial study in RP. Correlation of novel spatial functional maps with other functional measures (such as visual acuity and multifocal electroretinography) will help provide a full description of functional change. Employing new imaging methods to visualize and analyze structural changes in the retina will allow for the evaluation of structural changes that underlie disease progression. Developing these measures has the potential to advance the field by elucidating the process of photoreceptor degeneration as well as being a scaffold for which candidate therapies could be trialed.
Study Population: Up to 120 participants with a diagnosis of RP will be enrolled. Up to
30 healthy volunteers will also be enrolled for a total accrual ceiling of 150.
Design: This is a single center, observational, cross-sectional repeatability study of patients with retinitis pigmentosa. The goal of Aim 1 is to identify measures that could be used in future studies to track the extent of functional retina over time. The goal of Aim 2 is to evaluate structural measures for RP. The goal of Aim 3 is to assess the participant s performance on questionnaires assessing visual function. The goal of Aim 4 is to survey the cytokine/lymphokine profile.
Outcome Measures: The primary outcome measure will be the limits of agreement in repeatability calculations of the tests performed. Secondary outcome measures will include analysis of parameter testing based on severity groups. Macular thickness as measured by optical coherence tomography (OCT), as well as ellipsoid zone band length will be quantified. Functional testing with photopic perimetry and scoptopic perimetry and kinetics will be quantified. Multifocal electroretinography (mfERG) will be analyzed by subfield and possible ring analyses. Correlations of questionnaire scores with objective measures will be analyzed.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy Controls | – | –Participants without RP |
| Participants with RP | – | –Participants must have evidence of RP as defined by characteristic ERG responses, visual fields, clinical exam and/or genetic testing |
Who may qualify
- Ages
- 12 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Up to 120 participants aged 12 or older with a diagnosis of RP. Up to 30 healthy volunteers.@@@@@@
Key inclusion criteria (8 listed)
- To be eligible, the following inclusion criteria must be met, where applicable.
- Participant must be 12 years of age or older.
- Participant (or legal guardian) must understand and sign the protocol s informed consent document.
- Participant must have evidence of RP as defined by characteristic ERG responses, visual fields, clinical exam and /or genetic testing.
- Participant must be 18 years of age or older.
Key exclusion criteria (9 listed)
- A participant is not eligible if any of the following exclusion criteria are present.
- Participant is actively receiving study therapy in another investigational study.
- Participant is started on (or changed dosage of) topical or systemic carbonic anhydrase inhibitor (CAI) treatment in the three months prior to enrollment.
- Participant is expected to be unable to comply with study procedures or follow-up visits.
- Participant has evidence of an ocular disease other than RP in either eye that may confound the outcome of the study (e.g., diabetic retinopathy with ten or more hemorrhages or microaneurysms, uveitis, pseudovitelliform macular degeneration, severe myopia).
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
Macular thickness as measured by OCT, EZ band length; functional testing including photopic/scotopic perimetry and kinetics, mfERG
Time frame: ongoing
The primary outcome measure will be the limits of agreement in repeatability calculations of the tests performed.
1 secondary outcome
Secondary outcome measures will include analysis of parameter testing based on absolute measures to categorize testing results into severity groups
Time frame: ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Sep 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. This study is not recruiting at the moment.
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 Retinitis Pigmentosa, 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 8 inclusion and 9 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: finished, as of the sponsor's last update on 17 Sep 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Macular thickness as measured by OCT, EZ band length; functional testing including photopic/scotopic perimetry and kinetics, mfERG (time frame: ongoing). 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 17 Sep 2026.