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Protocol Details

A Survey Study of Retinitis Pigmentosa (RP) Clinical Measures and Repeatability Testing of Potential Outcome Measures.

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

19-EI-0056

Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 12 Years
Max Age: 100 Years

Referral Letter Required

No

Population Exclusion(s)

Adults who are or may become unable to consent

Keywords

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

Recruitment Keyword(s)

None

Condition(s)

Retinitis Pigmentosa

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

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.

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Eligibility

INCLUSION CRITERIA for RP Participants:

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.

INCLUSION CRITERIA FOR HEALTHY VOLUNTEERS:

To be eligible, the following inclusion criteria must be met:

1. Participant must be 18 years of age or older.

2. Participant must understand and sign the protocol s informed consent document.

3. Participant must not have evidence of RP.

EXCLUSION CRITERIA FOR ALL PARTICIPANTS:

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).

-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.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Laryssa A. Huryn, M.D.
National Eye Institute (NEI)
NIHBC 10 - CLINICAL CENTER BG RM 10D45
10 CENTER DR
BETHESDA MD 20892
(301) 435-8810
laryssa.huryn@nih.gov

Nancy Chen
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(240) 551-7020
nancy.chen@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT03845218

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