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

Sponsor

Applied Genetic Technologies Corp (Industry)

Overall Status

Recruiting

CT.gov ID

NCT03314207

Collaborator

(none)

Enrollment

Locations

Anticipated Duration (Months)

Patients Per Site

0.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
X-Linked Retinitis Pigmentosa

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

Study Type:

Observational

Anticipated Enrollment :

45 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Dec 1, 2017

Anticipated Primary Completion Date :

Dec 1, 2021

Anticipated Study Completion Date :

Dec 1, 2021

Outcome Measures

Primary Outcome Measures

Disease progression in subjects with XLRP [Day 0 - Month 36]

Secondary Outcome Measures

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]

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Years and Older

Sexes Eligible for Study:

Male

Accepts 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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Duke Eye Center, Duke University Medical Center	Durham	North Carolina	United States	27710
2	Casey Eye Institute, Oregon Health and Sciences University	Portland	Oregon	United States	97239
3	Retina Foundation of the Southwest	Dallas	Texas	United States	75231