Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP)

Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations

The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters.

Study Overview

• Status: Completed
• Conditions: X-Linked Retinitis Pigmentosa

Detailed Description

Males with a clinical diagnosis of X-linked retinitis pigmentosa (XLRP) caused by RPGR-ORF15 mutations will be asked to provide informed consent and will have a single blood or saliva sample obtained for DNA sequence analysis of genes known to cause XLRP, including the RPGR-ORF15 gene. All participants will be informed of the results of testing for these mutations. Those with qualifying mutations in the RPGR-ORF15 gene will be evaluated every 6 months for 3 years using a variety of non-invasive visual function tests to more fully characterize their clinical condition. Testing will include routine ophthalmic examinations and tests of visual acuity, perimetry, OCT, fundus imaging, and completion of quality of life questionnaires.

• Study Type: Observational
• Enrollment (Actual): 14

Contacts and Locations

• Study Contact: Name: Jill Dolgin, PharmD; Phone Number: 833-770-2862; Email: advocacy@agtc.com

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Duke Eye Center, Duke University Medical Center
  • Oregon
    • Portland, Oregon, United States, 97239
      • Casey Eye Institute, Oregon Health and Sciences University
  • Texas
    • Dallas, Texas, United States, 75231
      • Retina Foundation of the Southwest

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Non-Probability Sample

Study Population

Males with a clinical diagnosis of X-linked Retinitis Pigmentosa (XLRP)

Description

Inclusion Criteria:

• Male subjects with a clinical diagnosis of XLRP and a documented molecular diagnosis from a CLIA-certified laboratory of mutation within the ORF15 exon of the RPGR gene;
• At least 6 years of age;
• Willing and able to perform study procedures;
• Signed informed consent(s) obtained (and child assent where applicable).

Exclusion Criteria:

• Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
• Participating in an interventional research study of drugs or devices for treatment of XLRP or other retinal diseases;
• Monoocular participants
• Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Disease progression in subjects with XLRP	Day 0 - Month 36

Secondary Outcome Measures

Outcome Measure	Time Frame
Disease progression using visual acuity testing	Day 0 - Month 36
Disease progression using perimetry	Day 0 - Month 36
Disease progression using OCT	Day 0 - Month 36
Disease progression using electroretinography	Day 0 - Month 36
Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire	Day 0 - Month 36

Collaborators and Investigators

• Sponsor: Applied Genetic Technologies Corp
• Investigators: Study Director: Matthew Feinsod, MD, Applied Genetics Technologies Corporation

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2017
• Primary Completion (Actual): February 10, 2022
• Study Completion (Actual): February 10, 2022

Study Registration Dates

• First Submitted: October 11, 2017
• First Submitted That Met QC Criteria: October 17, 2017
• First Posted (Actual): October 19, 2017

Study Record Updates

• Last Update Posted (Estimate): January 11, 2023
• Last Update Submitted That Met QC Criteria: January 10, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Keywords: retinal degeneration; XLRP; RPGR; ORF15
• 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: AGTC-XLRP-001

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