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)
ConditionsX-Linked Retinitis Pigmentosa
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.
Investigators
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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