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

NCT ID: NCT04868916

Last Updated: 2025-04-25

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

15 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-07-26

Study Completion Date

2024-04-23

Brief Summary

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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

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Conditions

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X-Linked Retinitis Pigmentosa

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Janssen Pharmaceutical K.K.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Janssen Pharmaceutical K.K., Japan Clinical Trial

Role: STUDY_DIRECTOR

Janssen Pharmaceutical K.K.

Locations

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National Hospital Organization Tokyo Medical Center

Tokyo, , Japan

Site Status

Countries

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Japan

References

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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.

Reference Type DERIVED
PMID: 37895218 (View on PubMed)

Other Identifiers

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74765340RPG0001

Identifier Type: OTHER

Identifier Source: secondary_id

CR108926

Identifier Type: -

Identifier Source: org_study_id

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