X-Linked Retinitis PigmentosaNCT03314207
Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP)
An observational study of X-Linked Retinitis Pigmentosa, run by Beacon Therapeutics at 3 sites in United States.
Trial summary
The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters. Read more about this study
- Who is it for?
- Ages 6 years and older, men only
- Conditions the study is for
- X-Linked Retinitis Pigmentosa
- How many people
- 14 participants
- Where
- 3 sitesUnited States
- Study dates
- 1 Dec 2017to 10 Feb 2022
- 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 6 years and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Males with a clinical diagnosis of X-linked Retinitis Pigmentosa (XLRP)
Who may be able to join
- Male subjects with a clinical diagnosis of XLRP and a documented molecular diagnosis from a CLIA-certified laboratory of mutation within the ORF15 exon of the RPGR gene;
- At least 6 years of age;
- Willing and able to perform study procedures;
- Signed informed consent(s) obtained (and child assent where applicable).
Who cannot join
- Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
- Participating in an interventional research study of drugs or devices for treatment of XLRP or other retinal diseases;
- Monoocular participants
- Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Retina Foundation of the Southwest
Dallas, Texas, 75231
Duke Eye Center, Duke University Medical Center
Durham, North Carolina, 27710
Casey Eye Institute, Oregon Health and Sciences University
Portland, Oregon, 97239
About this study
Official title: Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations
The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters.
Read the detailed description
Males with a clinical diagnosis of X-linked retinitis pigmentosa (XLRP) caused by RPGR-ORF15 mutations will be asked to provide informed consent and will have a single blood or saliva sample obtained for DNA sequence analysis of genes known to cause XLRP, including the RPGR-ORF15 gene. All participants will be informed of the results of testing for these mutations. Those with qualifying mutations in the RPGR-ORF15 gene will be evaluated every 6 months for 3 years using a variety of non-invasive visual function tests to more fully characterize their clinical condition. Testing will include routine ophthalmic examinations and tests of visual acuity, perimetry, OCT, fundus imaging, and completion of quality of life questionnaires.
- Conditions
- X-Linked Retinitis Pigmentosa
- Keywords
- XLRP, retinal degeneration, RPGR, ORF15
- Medical subject headings
- Retinal Degeneration
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression in subjects with XLRP
Measured: Day 0 - Month 36
Secondary outcomes (5)
Disease progression using visual acuity testing
Measured: Day 0 - Month 36
Disease progression using perimetry
Measured: Day 0 - Month 36
Disease progression using OCT
Measured: Day 0 - Month 36
Disease progression using electroretinography
Measured: Day 0 - Month 36
Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire
Measured: Day 0 - Month 36
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2017
- Study start1 Dec 2017
- Primary completion10 Feb 2022
- Study completion10 Feb 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- 14 participants (actual)
Sponsor and investigators
- Lead sponsor
- Beacon Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Matthew Feinsod, MD, Study director, Applied Genetics Technologies Corporation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03314207
- Sponsor's protocol ID
- AGTC-XLRP-001
- Status last verified
- Jan 2023
- First submitted
- 11 Oct 2017
- Last updated
- 11 Jan 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations
- ClinicalTrials.gov ID
- NCT03314207
- Acronym / sponsor ID
- AGTC-XLRP-001
- Conditions
- X-Linked Retinitis Pigmentosa
- Keywords
- XLRP, retinal degeneration, RPGR, ORF15
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 14 participants (actual)
- Lead sponsor
- Beacon TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 1 Dec 2017 (actual)
- Primary completion
- 10 Feb 2022 (actual)
- Study completion
- 10 Feb 2022 (actual)
- First posted
- 19 Oct 2017 (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 this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure testing variability, and estimate rates of progression of clinical parameters.
Detailed description
Males with a clinical diagnosis of X-linked retinitis pigmentosa (XLRP) caused by RPGR-ORF15 mutations will be asked to provide informed consent and will have a single blood or saliva sample obtained for DNA sequence analysis of genes known to cause XLRP, including the RPGR-ORF15 gene. All participants will be informed of the results of testing for these mutations. Those with qualifying mutations in the RPGR-ORF15 gene will be evaluated every 6 months for 3 years using a variety of non-invasive visual function tests to more fully characterize their clinical condition. Testing will include routine ophthalmic examinations and tests of visual acuity, perimetry, OCT, fundus imaging, and completion of quality of life questionnaires.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Males with a clinical diagnosis of X-linked Retinitis Pigmentosa (XLRP)
Key inclusion criteria (4 listed)
- Male subjects with a clinical diagnosis of XLRP and a documented molecular diagnosis from a CLIA-certified laboratory of mutation within the ORF15 exon of the RPGR gene;
- At least 6 years of age;
- Willing and able to perform study procedures;
- Signed informed consent(s) obtained (and child assent where applicable).
Key exclusion criteria (4 listed)
- Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
- Participating in an interventional research study of drugs or devices for treatment of XLRP or other retinal diseases;
- Monoocular participants
- Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.
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
Disease progression in subjects with XLRP
Time frame: Day 0 - Month 36
5 secondary outcomes
Disease progression using visual acuity testing
Time frame: Day 0 - Month 36
Disease progression using perimetry
Time frame: Day 0 - Month 36
Disease progression using OCT
Time frame: Day 0 - Month 36
Disease progression using electroretinography
Time frame: Day 0 - Month 36
Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire
Time frame: Day 0 - Month 36
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 11 Jan 2023.
- Individual participant dataSharing planned: No
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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.
Matthew Feinsod, MD study director
Applied Genetics Technologies Corporation
3 sites 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 Beacon Therapeutics at 3 sites in United States.
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 4 inclusion and 4 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 11 Jan 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. 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?
Disease progression in subjects with XLRP (time frame: Day 0 - Month 36). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 11 Jan 2023; AzTrials last refreshed its copy on 8 Nov 2026.