Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP)

Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03314207

Enrollment

Registered

2017-10-19

Start date

2017-12-01

Completion date

2022-02-10

Last updated

2023-01-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

X-Linked Retinitis Pigmentosa

Keywords

XLRP, retinal degeneration, RPGR, ORF15

Brief 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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

6 Years to No maximum

Healthy volunteers

Inclusion criteria

* 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).

Exclusion criteria

* 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.

Design outcomes

Primary

Measure	Time frame
Disease progression in subjects with XLRP	Day 0 - Month 36

Secondary

Measure	Time frame
Disease progression using visual acuity testing	Day 0 - Month 36
Disease progression using perimetry	Day 0 - Month 36
Disease progression using OCT	Day 0 - Month 36
Disease progression using electroretinography	Day 0 - Month 36
Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire	Day 0 - Month 36

Countries

United States

Outcome results