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

Prospective Observational Study to Estimate the Genotype and Phenotype of Japanese Patients With X-linked Retinitis Pigmentosa Associated With Pathogenic Variants in Retinitis Pigmentosa GTPase Regulator (RPGR)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04868916

Enrollment

Registered

2021-05-03

Start date

2021-07-26

Completion date

2024-04-23

Last updated

2025-04-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

X-Linked Retinitis Pigmentosa

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Retinal Function	Up to Day 30	Retinal function will be assessed using static visual field testing.
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).

Countries

Japan

Outcome results