An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa

Completed

• Conditions: X-Linked Retinitis Pigmentosa

• Registration Number: NCT04868916
• Lead Sponsor: Janssen Pharmaceutical K.K.

Brief Summary

The purpose of the study is to identify a cohort of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in the retinitis pigmentosa GTPase regulator (RPGR) gene and to investigate their associated phenotype.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-04-28
• Study First Submitted QC: 2021-04-28
• Study First Posted: 2021-05-03
• Study Start: 2021-07-26
• Primary Completion: 2024-04-23
• Study Completion: 2024-04-23
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-24
• Last Update Posted: 2025-04-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 15

Inclusion Criteria

• Have RPGR-associated retinal dystrophy
• Are able to give informed consent or assent, with the guidance of their parent/guardian where appropriate
• Are able to undertake age-appropriate clinical assessments as specified in the protocol

Exclusion Criteria

• Are unable or unwilling to undertake consent or clinical testing
• Participated in another research study and had intraocular surgery within 3 months of screening
• Significant ophthalmologic diseases

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Visual Function	Up to Day 30	Visual function will be assessed using visual acuity.
Retinal Structure	Up to Day 30	Retinal structure will be assessed using spectral domain optical coherence tomography (SDOCT).
Retinal Function	Up to Day 30	Retinal function will be assessed using static visual field testing.

Trial Locations

Locations (1)

National Hospital Organization Tokyo Medical Center; 🇯🇵 Tokyo, Japan