Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures

NCT03845218 | Completed

• 2 other identifiers: 19005619-EI-0056
• Study Type: observational
• Target: 49
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Retinitis Pigmentosa

Keywords

Retina; Imaging; Psychophysics; Functional Outcome Measures; Natural History

Outcome Measures

Primary Outcomes (1)

• 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.

  ongoing

Secondary Outcomes (1)

• Secondary outcome measures will include analysis of parameter testing based on absolute measures to categorize testing results into severity groups

  ongoing

Study Arms (2)

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

Eligibility Criteria

• Age: 12 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Up to 120 participants aged 12 or older with a diagnosis of RP. Up to 30 healthy volunteers.@@@@@@

You may qualify if:

• 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.
• Participant must understand and sign the protocol s informed consent document.
• Participant must not have evidence of RP.

You may not qualify if:

• 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).
• 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.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Laryssa A Huryn, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 16, 2019
• First Posted: February 19, 2019
• Study Start: September 27, 2019
• Primary Completion: July 19, 2023
• Study Completion: July 19, 2023
• Last Updated: October 3, 2025

Record last verified: 2025-10-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)