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Clinical Trials/NCT04868916
NCT04868916
Completed
Not Applicable

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)

Janssen Pharmaceutical K.K.1 site in 1 country15 target enrollmentJuly 26, 2021

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
X-Linked Retinitis Pigmentosa
Sponsor
Janssen Pharmaceutical K.K.
Enrollment
15
Locations
1
Primary Endpoint
Visual Function
Status
Completed
Last Updated
last year

Overview

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.

Registry
clinicaltrials.gov
Start Date
July 26, 2021
End Date
April 23, 2024
Last Updated
last year
Study Type
Observational
Sex
All

Investigators

Responsible Party
Sponsor

Eligibility Criteria

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

Outcomes

Primary Outcomes

Visual Function

Time Frame: Up to Day 30

Visual function will be assessed using visual acuity.

Retinal Structure

Time Frame: Up to Day 30

Retinal structure will be assessed using spectral domain optical coherence tomography (SDOCT).

Retinal Function

Time Frame: Up to Day 30

Retinal function will be assessed using static visual field testing.

Study Sites (1)

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