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

NCT03314207 | Completed

• 1 other identifier: AGTC-XLRP-001
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

X-Linked Retinitis Pigmentosa

Keywords

XLRP; retinal degeneration; RPGR; ORF15

Outcome Measures

Primary Outcomes (1)

• Disease progression in subjects with XLRP

  Day 0 - Month 36

Secondary Outcomes (5)

• 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

Eligibility Criteria

• Age: 6 Years+
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• Beacon Therapeutics: lead

Study Sites (3)

Duke Eye Center, Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Casey Eye Institute, Oregon Health and Sciences University

Portland, Oregon, 97239, United States

Location

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

Location

MeSH Terms

Conditions

Retinal Degeneration

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Diseases

Study Officials

• Matthew Feinsod, MD

  Applied Genetics Technologies Corporation

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 11, 2017
• First Posted: October 19, 2017
• Study Start: December 1, 2017
• Primary Completion: February 10, 2022
• Study Completion: February 10, 2022
• Last Updated: January 11, 2023

Record last verified: 2023-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)