X-Linked Retinitis PigmentosaNCT04868916
An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa
An observational study of X-Linked Retinitis Pigmentosa, run by Janssen Pharmaceutical K.K. at 1 site in Japan.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- X-Linked Retinitis Pigmentosa
- How many people
- 15 participants
- Where
- 1 siteJapan
- Study dates
- 26 Jul 2021to 23 Apr 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Study population consists of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR).
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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)
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.
- Conditions
- X-Linked Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual Function
Visual function will be assessed using visual acuity.
Measured: Up to Day 30
Retinal Structure
Retinal structure will be assessed using spectral domain optical coherence tomography (SDOCT).
Measured: Up to Day 30
Retinal Function
Retinal function will be assessed using static visual field testing.
Measured: Up to Day 30
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 May 2021
- Study start26 Jul 2021
- Primary completion23 Apr 2024
- Study completion23 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for X-Linked Retinitis PigmentosaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 15 participants (actual)
Sponsor and investigators
- Lead sponsor
- Janssen Pharmaceutical K.K.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Janssen Pharmaceutical K.K., Japan Clinical Trial, Study director, Janssen Pharmaceutical K.K.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04868916
- Sponsor's protocol ID
- CR108926
- Other IDs
- 74765340RPG0001
- Status last verified
- Apr 2025
- First submitted
- 28 Apr 2021
- Last updated
- 25 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated device
- No
Publications
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.
PubMed 37895218
Study at a glance
From the registry record, last updated by the sponsor on 25 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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)
- ClinicalTrials.gov ID
- NCT04868916
- Acronym / sponsor ID
- CR108926
- Conditions
- X-Linked Retinitis Pigmentosa
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 15 participants (actual)
- Lead sponsor
- Janssen Pharmaceutical K.K.Industry (pharma, biotech, devices)
- Study start
- 26 Jul 2021 (actual)
- Primary completion
- 23 Apr 2024 (actual)
- Study completion
- 23 Apr 2024 (actual)
- First posted
- 3 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study population consists of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR).
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Apr 2025.
- Derived from this study: PubMed 37895218Fujinami-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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Janssen Pharmaceutical K.K., Japan Clinical Trial study director
Janssen Pharmaceutical K.K.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-Linked Retinitis Pigmentosa, run by Janssen Pharmaceutical K.K. at 1 site in Japan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Japan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Visual Function (time frame: Up to Day 30). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04868916, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Apr 2025.