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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03314207
Recruitment Status : Recruiting
First Posted : October 19, 2017
Last Update Posted : January 14, 2021
Sponsor:
Information provided by (Responsible Party):
Applied Genetic Technologies Corp

Study Description
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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
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
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Study Type : Observational
Estimated 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 : December 1, 2017
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : December 2021

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Disease progression in subjects with XLRP [ Time Frame: Day 0 - Month 36 ]

Secondary Outcome Measures :
  1. Disease progression using visual acuity testing [ Time Frame: Day 0 - Month 36 ]
  2. Disease progression using perimetry [ Time Frame: Day 0 - Month 36 ]
  3. Disease progression using OCT [ Time Frame: Day 0 - Month 36 ]
  4. Disease progression using electroretinography [ Time Frame: Day 0 - Month 36 ]
  5. Disease progression using the National Eye Institute Visual Functioning Questionnaire-25 (VFQ-25) quality of life questionnaire [ Time Frame: Day 0 - Month 36 ]

Eligibility Criteria
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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Males with a clinical diagnosis of X-linked Retinitis Pigmentosa (XLRP)
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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03314207


Contacts
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Contact: Jill Dolgin, PharmD 833-770-2862 advocacy@agtc.com

Locations
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United States, North Carolina
Duke Eye Center, Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
United States, Oregon
Casey Eye Institute, Oregon Health and Sciences University Recruiting
Portland, Oregon, United States, 97239
United States, Texas
Retina Foundation of the Southwest Recruiting
Dallas, Texas, United States, 75231
Sponsors and Collaborators
Applied Genetic Technologies Corp
Investigators
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Study Director: Matthew Feinsod, MD Applied Genetics Technologies Corporation
More Information
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Responsible Party: Applied Genetic Technologies Corp
ClinicalTrials.gov Identifier: NCT03314207    
Other Study ID Numbers: AGTC-XLRP-001
First Posted: October 19, 2017    Key Record Dates
Last Update Posted: January 14, 2021
Last Verified: January 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Applied Genetic Technologies Corp:
XLRP
retinal degeneration
RPGR
ORF15
Additional relevant MeSH terms:
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Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
 Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn