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Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics

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Abstract Number: 5168

AuthorBlock: Moreno Menghini1,12, David G. Birch4, Camiel Boon2,13, Jacque L. Duncan5, M Dominik Fischer3, Frank G. Holz6, Carel C B Hoyng7, Kamron N. Khan8, Isabelle Anne Meunier9, Mark E. Pennesi10, Eeva-Marja Kaarina Sankila11, Robert E. MacLaren1,12
1Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom; 2Ophthalmology, Leiden University Medical Center, Leiden, Netherlands; 3STZ Eye Trial am Department für Augenheilkunde, Universitatsklinikum der Eberhard Karls Universitat Tübingen, Tübingen, Germany; 4Retina Foundation of the Southwest, Dallas, Texas, United States; 5Ophthalmology, University of California San Francisco, San Francisco, California, United States; 6University Eye Clinic Bonn, Bonn, Germany; 7Ophthalmology and Human Genetics, Radboud University Medical Center, Nijmengen, Netherlands; 8Leeds Teaching Hospitals NHS Trust, St James's Hospital , Leeds, United Kingdom; 9Service d’Ophtalmologie centre de références maladies rares, CHU Montpellier, Montpellier, France; 10Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States; 11Eye Clinic, Helsinki University Central Hospital, Helsinki, Finland; 12Oxford Eye Hospital, Oxford, United Kingdom; 13Ophthalmology, Academic Medical Center, Amsterdam University Medical Centers, Amsterdam, Netherlands;

DisclosureBlock: Moreno Menghini, Nightstar therapeutics Code F (Financial Support) , Nightstar therapeutics Code I (Personal Financial Interest) , David G. Birch, Nightstar therapeutics Code F (Financial Support), Nightstar therapeutics Code C (Consultant), Applied Genetics Technology Code C (Consultant), Camiel Boon, Nightstar therapeutics Code F (Financial Support), Jacque L. Duncan, Nightstar therapeutics Code F (Financial Support), Applied Genetics Technology Code C (Consultant), M Dominik Fischer, Nightstar therapeutics Code F (Financial Support), Nightstar therapeutics Code C (Consultant), Nightstar therapeutics Code P (Patent), Nightstar therapeutics Code I (Personal Financial Interest), Frank G. Holz, Nightstar therapeutics Code F (Financial Support), Carel C B Hoyng, Nightstar therapeutics Code F (Financial Support), Kamron N. Khan, Nightstar therapeutics Code F (Financial Support), Isabelle Anne Meunier, Nightstar therapeutics Code F (Financial Support), Mark E. Pennesi, Nightstar therapeutics Code F (Financial Support), Nightstar therapeutics Code C (Consultant), Eeva-Marja Kaarina Sankila, Nightstar therapeutics Code F (Financial Support), Robert E. MacLaren, Nightstar therapeutics Code F (Financial Support), Nightstar therapeutics Code I (Personal Financial Interest), Nightstar therapeutics Code C (Consultant), Nightstar therapeutics Code P (Patent)

Purpose
The objective of the XOLARIS study is to gain a better understanding of disease progression over time in male subjects with RPGR-associated X-linked retinitis pigmentosa (XLRP). Here we present baseline characteristics and correlations among potential endpoints within the available time frame.

Methods
This is a multicenter, prospective, international, observational study consisting of 7 visits over a 24 months period. Subjects must be males, ≥16 years of age, with XLRP and genetically confirmed pathogenic mutations in the RPGRgene. In at least 1 eye, active disease must be clinically visible within the macular region, determined through assessment of compromised ellipsoid zone by spectral domain optical coherence tomography (SD-OCT), and best-corrected visual acuity (BCVA) must be ≥34 letters using the Early Treatment of Diabetic Retinopathy Study (ETDRS) scale. Clinical measures include BCVA, low-luminance visual acuity, MAIA microperimetry, visual field; lens opacity grading, SD-OCT, autofluorescence, fundus photography, color vision, and the 25-item visual function questionnaire.

Results
This study is ongoing, with 53 subjects (47 white, 3 other race, 2 Asian, 1 black) currently enrolled. Of the defined RPGRmutations, the majority are exon (n=20)and ORF15(n=19). The mean age is 30.3±11.9 years (range 16–84). The data for both eyes are presented for ophthalmic outcomes. BCVA at baseline was 65.9±12.7 ETDRS letters (median = 67; range 0-91). The mean central ellipsoid area (EZ area) was 1.2±2.0 mm2(median = 0.5; range 0–10.3). The central horizontal ellipsoid width (EZ width) was 975±909 microns (median = 752; range 0–4170). Microperimetry (mean retinal sensitivity in 68 loci) was 4.9±4.7 decibels (median 3.5; range 0–21).

Conclusions
Wide variability is observed in XLRP patients, largely as a function of age and duration of disease, and disease severity. Understanding the baseline characteristics of this rare disease in a large cohort will allow us to define its progression and the precise measures and endpoints that may be modifiable with intervention.

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