A Natural History Study to Evaluate Functional and Anatomical Progression in Retinitis Pigmentosa

This study will assess the progression of RP as seen on newer modalities including spectral-domain optical coherence (SD-OCT) and macular assessment integrity (MAIA) microperimetry to evaluate disease status. Understanding the natural history of the disease is not only essential to monitoring and comparing patient populations in clinical trials. It is also fundamental in the predevelopment phase in order to optimize the study duration needed to observe a statistically significant outcome. Furthermore, since the progression of RP is usually slow, relying on traditional tests can take an unfeasible length of time to observe any meaningful changes and assess therapeutic efficacy for new drugs. Therefore, the results of this study will be beneficial in establishing reliable endpoints and outcome measures for future clinical trials. Such outcome measures may be able to detect treatment response with more precision. More importantly, investigators may be able to detect changes early enough to prevent irreversible vision loss.

Study Overview

• Status: Recruiting
• Conditions: Retinitis Pigmentosa

• Study Type: Observational
• Enrollment (Estimated): 130

Contacts and Locations

• Study Contact: Name: Gulnar Hafiz, M.D., M.P.H.; Phone Number: 4105020768; Email: ghafiz@jhmi.edu
• Study Contact Backup: Name: Dagmar Wehling, B.S.; Phone Number: 4105027621; Email: dwehlin1@jhu.edu

Study Locations

• United States
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • Recruiting
      • Wilmer Eye Institute at Johns Hopkins University
      • Contact: Gulnar Hafiz, M.D., M.P.H.; Phone Number: 410-502-0768; Email: ghafiz@jhmi.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with Retinitis Pigmentosa

Description

Inclusion Criteria:

• Age 18 years or older
• Patients diagnosed with Retinitis Pigmentosa
• Ability to provide informed consent
• Ability to authorize use and disclosure of protected health information

Exclusion Criteria:

• Concomitant ocular pathology that limits central macular function, including but not limited to age-related macular degeneration, diabetic retinopathy, and retinal vein occlusion
• If EZ width ≤200µm

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Retinitis Pigmentosa; Patients with Retinitis Pigmentosa

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in mean macular sensitivity (dB) over time as assessed by microperimetry	Microperimetry (MAIA) will be used to test whether there is a change in sensitivity (dB) in the macula	Baseline, every six months up to 2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in Best Corrected Visual Acuity (BVCA)	Scoring will be determined by the number of letters gained or lost per month using Early Treatment Diabetic Retinopathy Study (ETDRS) Letter Score and visual acuity score together with an overall score range of 0 to 20/20 where 0 is the worst vision and 20/20 is the best.	Baseline, every six months up to 2 years
Change in Ellipsoid Zone (EZ) width	This will be assessed by spectral domain optical coherence tomography (SD-OCT)	Baseline, every six months up to 2 years
Change in Quality of Life survey metrics	Scoring will be determined by the National Eye Institute's Visual Function Questionnaire (NEI-VFQ-25). It has 25 question elements each with score ranging from 1(excellent) to 6(very poor), therefore a total minimum score of 25 and maximum score 150.	Baseline, every year up to 2 years
Change in mean retinal sensitivity	Static Octopus Perimetry will be used to test whether there is a change in mean retinal sensitivity over time using its 30-2 program with III target	Baseline and at 2 years
Correlation between change in visual functional and anatomical measures	Change in visual function parameters such as Best Corrected Visual acuity (measured using ETDRS and visual acuity scale), mean macular sensitivity (quantified using MAIA microperimetry), mean retinal sensitivity (quantified using static Octopus perimetry) will be correlated to anatomical parameters such as Ellipsoid width (measurement on Optical Coherence Tomography)	Baseline, every six months up to 2 years
Correlation between change in visual functional measures and Quality of Life survey metrics	Change in Quality of Life survey metrics (Scored using National Eye Institute's Visual Function Questionnaire, NEI-VFQ-25) will be compared to visual function parameters such as Best Corrected Visual acuity (measured using ETDRS and visual acuity scale), mean macular sensitivity (quantified using MAIA microperimetry), mean retinal sensitivity (quantified using static Octopus perimetry)	Baseline, every year up to 2 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation between baseline functional and anatomical measures	Visual function parameters at baseline such as Best Corrected Visual acuity (measured using ETDRS and visual acuity scale), mean macular sensitivity (quantified using MAIA microperimetry), mean retinal sensitivity (quantified using static Octopus perimetry) will be correlated to anatomical parameters at baseline such as Ellipsoid width (measurement on Optical Coherence Tomography)	Baseline, up to 2 years
Correlation between baseline functional measures and Quality of Life survey metrics	Visual function parameters at baseline such as Best Corrected Visual acuity (measured using ETDRS and visual acuity scale), mean macular sensitivity (quantified using MAIA microperimetry), mean retinal sensitivity (quantified using static Octopus perimetry) will be correlated to baseline Quality of Life survey metrics (Scored using National Eye Institute's Visual Function Questionnaire, NEI-VFQ-25)	Baseline, up to 2 years
Correlation between functional, anatomic and Quality of Life measures	Visual function parameters such as Best Corrected Visual acuity (measured using ETDRS and visual acuity scale), mean macular sensitivity (quantified using MAIA microperimetry), mean retinal sensitivity (quantified using static Octopus perimetry), anatomical parameters such as Ellipsoid width (measurement on Optical Coherence Tomography) Quality of Life survey metrics (Scored using National Eye Institute's Visual Function Questionnaire, NEI-VFQ-25) will be correlated.	Baseline, up to 2 years
Proportion of eyes with ≥ 5 loci that show ≥ 6 decibels (dB) decline in mean macular sensitivity from baseline	This will be measured using MAIA microperimetry	Baseline, every six months up to 2 years
Proportion of eyes with ≥ 5 loci that show ≥ 7 decibels (dB) decline in mean retinal sensitivity from baseline	This will be measured by static Octopus perimetry using 30-2 program with III target	Baseline and at 2 years

Collaborators and Investigators

• Sponsor: Johns Hopkins University
• Investigators: Principal Investigator: Peter A Campochiaro, M.D., Johns Hopkins University

Study record dates

Study Major Dates

• Study Start (Actual): June 11, 2020
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): January 1, 2025

Study Registration Dates

• First Submitted: September 16, 2020
• First Submitted That Met QC Criteria: September 16, 2020
• First Posted (Actual): September 22, 2020

Study Record Updates

• Last Update Posted (Actual): March 19, 2024
• Last Update Submitted That Met QC Criteria: March 15, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Retinal Dystrophies; Retinitis; Retinitis Pigmentosa
• Other Study ID Numbers: IRB00227603

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No