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)
2 other identifiers
observational
15
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Jul 2021
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 28, 2021
CompletedFirst Posted
Study publicly available on registry
May 3, 2021
CompletedStudy Start
First participant enrolled
July 26, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 23, 2024
CompletedStudy Completion
Last participant's last visit for all outcomes
April 23, 2024
CompletedApril 25, 2025
April 1, 2025
2.7 years
April 28, 2021
April 24, 2025
Conditions
Outcome Measures
Primary Outcomes (3)
Visual Function
Visual function will be assessed using visual acuity.
Up to Day 30
Retinal Structure
Retinal structure will be assessed using spectral domain optical coherence tomography (SDOCT).
Up to Day 30
Retinal Function
Retinal function will be assessed using static visual field testing.
Up to Day 30
Study Arms (1)
Participants with X-Linked Retinitis Pigmentosa (XLRP)
Participants with confirmed diagnosis of XLRP associated with pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) in the Japanese population will be enrolled in the study and the data will be collected and observed. The primary data source for this study will be the medical records of each participant.
Eligibility Criteria
Study population consists of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR).
You may qualify if:
- 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
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Hospital Organization Tokyo Medical Center
Tokyo, 152 8902, Japan
Related Publications (1)
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K. Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. Genes (Basel). 2023 Sep 26;14(10):1869. doi: 10.3390/genes14101869.
PMID: 37895218DERIVED
Study Officials
- STUDY DIRECTOR
Janssen Pharmaceutical K.K., Japan Clinical Trial
Janssen Pharmaceutical K.K.
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 28, 2021
First Posted
May 3, 2021
Study Start
July 26, 2021
Primary Completion
April 23, 2024
Study Completion
April 23, 2024
Last Updated
April 25, 2025
Record last verified: 2025-04