Clinical trial NCT03314207: Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP)
Official title: Clinical Evaluation of Individuals With X-linked Retinitis Pigmentosa (XLRP) Caused by RPGR-ORF15 Mutations
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: X-Linked Retinitis Pigmentosa
Keywords: XLRP
retinal degeneration
RPGR
ORF15
Lead sponsor: Beacon Therapeutics
Sponsor class: INDUSTRY
First posted: 2017-10-19
Enrollment: 14
Sex: MALE
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Males with a clinical diagnosis of X-linked Retinitis Pigmentosa (XLRP)

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Disease progression in subjects with XLRP
timeFrame: Day 0 - Month 36
Secondary outcomes:
measure: Disease progression using visual acuity testing
timeFrame: Day 0 - Month 36
measure: Disease progression using perimetry
timeFrame: Day 0 - Month 36
measure: Disease progression using OCT
timeFrame: Day 0 - Month 36
measure: Disease progression using electroretinography
timeFrame: Day 0 - Month 36
measure: Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire
timeFrame: Day 0 - Month 36
Other outcomes:
Locations:
city: Durham
country: United States
facility: Duke Eye Center, Duke University Medical Center
state: North Carolina
city: Portland
country: United States
facility: Casey Eye Institute, Oregon Health and Sciences University
state: Oregon
city: Dallas
country: United States
facility: Retina Foundation of the Southwest
state: Texas
Study officials:
affiliation: Applied Genetics Technologies Corporation
name: Matthew Feinsod, MD
role: STUDY_DIRECTOR
References: