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

X-Linked Retinitis Pigmentosa Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03314207
• Other study ID #: AGTC-XLRP-001
• Status: Completed
• Start date: December 1, 2017
• Est. completion date: February 10, 2022

Study information

• Verified date: January 2023
• Source: Applied Genetic Technologies Corp
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 14
• Est. completion date: February 10, 2022
• Est. primary completion date: February 10, 2022
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 6 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Retinitis
• Retinitis Pigmentosa
• X-Linked Retinitis Pigmentosa

Locations

Country	Name	City	State
United States	Retina Foundation of the Southwest	Dallas	Texas
United States	Duke Eye Center, Duke University Medical Center	Durham	North Carolina
United States	Casey Eye Institute, Oregon Health and Sciences University	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Applied Genetic Technologies Corp

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Disease progression in subjects with XLRP		Day 0 - Month 36
Secondary	Disease progression using visual acuity testing		Day 0 - Month 36
Secondary	Disease progression using perimetry		Day 0 - Month 36
Secondary	Disease progression using OCT		Day 0 - Month 36
Secondary	Disease progression using electroretinography		Day 0 - Month 36
Secondary	Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire		Day 0 - Month 36