Natural History of PRPF31 Mutation-Associated Retinal Dystrophy (NCT05573984) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
United States50 participantsStarted 2022-07-07
Plain-language summary
The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11.
Assessments will be completed to measure and evaluate structural and functional visual changes including those impacting patient quality of life associated with this inherited retinal condition and observing how these changes evolve over time.
Who can participate
Age range10 Years
SexALL
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Inclusion criteria
✓. Male or female, ≥ 10 years of age at baseline (Visit 2).
✓. Have a clinical and molecular diagnosis of PRPF31 mutation-associated retinal dystrophy.
✓. If ≥ 18 years of age, understand the language of the informed consent and are willing and able to provide written informed consent prior to any study procedures. If \< 18 years of age, are willing to assent to study participation in writing and have a legally authorized representative provide written informed consent on your behalf.
✓. Are willing to comply with the instructions and attend all scheduled study visits.
Exclusion criteria
✕. Have any uncontrolled systemic disease that, in the opinion of the Investigator, would preclude participation in the study (e.g., infection, uncontrolled elevated blood pressure, cardiovascular disease, or glycemic control issues) or put the participant at risk due to study procedures.
✕. Have mutations in genes that cause autosomal dominant retinitis pigmentosa (adRP), X-linked retinitis pigmentosa (XLRP), or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than PRPF31 mutations.
✕. Have used anti-vascular endothelial growth factor (VEGF) agents or corticosteroid injections or implants.
✕. Have had Ozurdex® implants placed within 3 months or Retisert® or Iluvien® implants placed within 3 years prior to Visit 2.
✕. Within 3 months prior to Visit 2, have undergone any vitreoretinal surgery (scleral buckle, pars plana vitrectomy, retrieval of a dropped nucleus or intraocular lens, radial optic neurotomy, sheathotomy, cyclodestructive procedures or multiple filtration surgeries \[2 or more\], etc.) or any other ocular surgery.
What they're measuring
1
Change from Baseline in Best Corrected Visual Acuity (BCVA)
Timeframe: Baseline through Year 4
2
Change in Best Corrected Low Luminance Visual Acuity (LLVA)
Timeframe: Baseline through Year 4
3
Change from Baseline in Retinal Thickness
Timeframe: Baseline through Year 4
4
Change from Baseline in Ellipsoid Zone (EZ) Area
Timeframe: Baseline through Year 4
5
Change from Baseline in Ellipsoid Zone (EZ) Volume
✕. Have ocular media opacity or poor pupillary dilation that prohibits quality ophthalmic evaluation or photography.
✕. Have used any investigational drug or device within 90 days or 5 estimated half-lives of Visit 2, whichever is longer, or plan to participate in another study of drug or device during the study period.
✕. Have received any prior cell or gene therapy for a retinal condition.
9
Change from Baseline in Full Field Retinal Sensitivity
Timeframe: Baseline through Year 4
10
Change from Baseline in Electrical response
Timeframe: Baseline through Year 4
11
Characterization of Changes of the Retina with Fundus Photography
Timeframe: Baseline through Year 4
12
Change from Baseline in Area of Fundus Autofluorescence (FAF)
Timeframe: Baseline through Year 4
13
Change from Baseline in Functional Vision
Timeframe: 3 times prior to Month 4
14
Change in Patient Reported Outcome Measures using Michigan Retinal Degeneration Questionnaire (MRDQ)
Timeframe: Baseline through Year 4
15
Change in Patient Reported Outcome Measures using Patient Global Impression of Severity (PGI-S) scale
Timeframe: Baseline through Year 4
16
Change in Patient Reported Outcome Measures using Patient Global Impression of Change (PGI-C) scale