Color Vision as a Measure for Inherited Retinal Diseases

NCT ID: NCT01878032

Last Updated: 2017-10-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

166 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-06-03

Study Completion Date

2017-04-14

Brief Summary

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Background:

\- The purpose of this study is to find out whether color vision measured with the Cambridge Color Test is a good way to examine the severity of inherited retinal diseases (IRDs). IRDs are a major cause of vision loss worldwide, but very little is known about how the diseases affect color vision over time. This study will tell us if color vision may be used to track changes in inherited retinal diseases over time.

Objectives:

\- To improve understanding of color vision as a way to measure changes in inherited retinal diseases.

Eligibility:

* People 5 years of age or older who have an IRD.
* Healthy volunteers at least 5 years of age.

Design:

* Participants will make at least one visit to the National Eye Institute clinic. If they sign up for more tests, they may have up to three visits to the NEI clinic.
* Participants will be asked questions about their medical and eye history.
* Participants will be given an eye exam, including eye drops to dilate their pupils. They will take the Cambridge Color Test, which includes looking at a monitor and pressing a button, and arranging colored circles. Several other tests may be offered, but participants can decline to take them.
* Treatment will not be provided as part of this study.

Detailed Description

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Objective: The aims of this study are to 1) examine the sensitivity of the Cambridge Color Test (CCT) and the low vision CCT (LvCCT) to the severity of retinal disease in inherited retinal degeneration (IRD) by comparing color vision status with changes in photoreceptor structure and function, 2) examine the effects of eccentric fixation and reduction in visual acuity on color discrimination thresholds obtained with the CCT and LvCCT, and 3) establish normal ranges for the CCT and the LvCCT and determine the intra-session and inter-session variabilities for these tests.

Study Population: Up to 59 healthy volunteers and 144 IRD participants age 5 or older will be enrolled in this study.

Design: This study will be comprised of three related projects. For Aim 1, color discrimination thresholds (CCT and LvCCT) and assessments of retinal structure (imaging) and function (perimetry/microperimetry and electroretinogram) will be measured in 144 IRD participants with varying retinal phenotypes and visual acuities. IRD participants will be divided into four major categories: 1) cone \& cone-rod dystrophies, 2) rod-cone dystrophies, 3) inherited maculopathies, and 4) inherited retinal dysfunction syndromes. The fourth category will be used for IRDs that do not match the description for categories 1-3 (i.e., x-linked retinoschisis, congenital stationary night blindness). Degree of severity of retinal dysfunction in IRD participants will be determined relative to the normal ranges obtained from the healthy volunteers (see Aim 3a below). For Aim 2 color discrimination thresholds (CCT and LvCCT) will be measured in one eye from 12 healthy volunteers in order to examine the effects of eccentric fixation and reduced visual acuity on color thresholds independent of retinal pathology. Between one and three study visits will be required for this aim. Aim 3 will be comprised of two parts. For Aim 3a, color thresholds will be collected from both eyes (for intraocular variability) of 35 healthy volunteers age 5 or older. For Aim 3B, color discrimination thresholds (CCT and LvCCT) will measured from 12 healthy volunteers twice in one session and then again at a second visit occurring within two months of the initial visit to determine intra-session and inter-session variability.

Outcome Measures: For both the CCT and LvCCT, an overall quantitative measure of color vision will be obtained from the calculation of achromatic area. The sensitivity of CCT and LvCCT will be examined by comparing achromatic area for IRD participants with varying levels of phenotype severity defined by measures of retinal structure and function. Secondary outcomes for this study include: 1) evaluation of sensitivity of the CCT and LvCCT to disease severity,

2\) evaluation of the effects of decreased visual acuity and eccentricity on color discrimination thresholds (CCT and LvCCT), 3) establishment of the normal range of color discrimination thresholds (CCT and LvCCT) as a function of age, and 4) determination of intra- and inter-session variabilities of the two tests.

Conditions

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Healthy Volunteer Retinal Disease Inherited Retinal Degeneration

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

1. Participants must be 5 years of age or older.
2. Participant (or legal guardian) must understand and sign the protocol s informed consent document.
3. Participant must be able to cooperate with the testing required for this study.
4. Participant s eyes must have clarity of ocular media and degree of pupil dilation sufficient to permit adequate fundus photography.
5. For IRD Participants only:

1. Participant must have IRD, defined as evidence of retinal rod- and cone-mediated

dysfunction and degeneration established by standard clinical methods including field tests, ERG, and imaging.
2. Participant must have a measurable visual acuity.
6. For Healthy Volunteers only:

1. Participant must have visual acuity of 20/20 or better.

Exclusion Criteria

1. Participant is taking medications known to alter color vision, such as hydroxychloroquine (Plaquenil ), sildenafil (Viagra ), ethambutol, chloroquine amiodarone, and pamidronate disodium.
2. Participant has another ocular disease that may confound the study results, such as diabetic retinopathy, vascular occlusions, retinopathy related to drug toxicity, optic neuropathy, or central serous chorioretinopathy.
Minimum Eligible Age

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Eye Institute (NEI)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Brett G Jeffrey, Ph.D.

Role: PRINCIPAL_INVESTIGATOR

National Eye Institute (NEI)

Locations

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National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, United States

Site Status

Countries

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United States

References

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Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012 Jan;130(1):9-24. doi: 10.1001/archophthalmol.2011.298. Epub 2011 Sep 12.

Reference Type BACKGROUND
PMID: 21911650 (View on PubMed)

Schwartz SD, Hubschman JP, Heilwell G, Franco-Cardenas V, Pan CK, Ostrick RM, Mickunas E, Gay R, Klimanskaya I, Lanza R. Embryonic stem cell trials for macular degeneration: a preliminary report. Lancet. 2012 Feb 25;379(9817):713-20. doi: 10.1016/S0140-6736(12)60028-2. Epub 2012 Jan 24.

Reference Type BACKGROUND
PMID: 22281388 (View on PubMed)

Birch DG. A randomized placebo-controlled clinical trial of docosahexaenoic acid (DHA) supplementation for X-linked retinitis pigmentosa. Retina. 2005 Dec;25(8 Suppl):S52-S54. doi: 10.1097/00006982-200512001-00023. No abstract available.

Reference Type BACKGROUND
PMID: 16374336 (View on PubMed)

Other Identifiers

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13-EI-0154

Identifier Type: -

Identifier Source: secondary_id

130154

Identifier Type: -

Identifier Source: org_study_id