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. 2024 Jan 1;44(1):1-9.
doi: 10.1097/IAE.0000000000003920.

A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR -ASSOCIATED X-LINKED RETINITIS PIGMENTOSA

Byron L Lam  1 , Hendrik P N Scholl  2   3 , Daneal Doub  4 , Marvin Sperling  5 , Mahmoud Hashim  5 , Nan Li  5
Affiliations

A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR -ASSOCIATED X-LINKED RETINITIS PIGMENTOSA

Byron L Lam et al. Retina. .

Abstract

Purpose: Retinitis pigmentosa GTPase regulator-associated X-linked retinitis pigmentosa ( RPGR -associated XLRP) is a rare and severe form of retinitis pigmentosa, resulting in progressive visual impairment; however, disease progression data are limited. A systematic literature review was conducted to assess available data on disease progression in RPGR -associated XLRP.

Methods: PubMed, Embase, and select congress abstracts were evaluated through June 2022. Eligible studies included results specific to RPGR -associated XLRP or populations with ≥80% of patients with retinitis pigmentosa carrying disease-causing RPGR variants. End points of interest included visual acuity, visual field, ellipsoid zone width, progression to blindness, and patient-reported outcomes.

Results: Fourteen studies met ≥1 end point of interest. Progressive declines in visual acuity, visual field, and ellipsoid zone width were reported across studies. Nearly all publications reported annual declines in visual acuity (3.5%-8.2%). Annual visual field declines ranged from 4.2% to 13.3%. Changes in retinal structure were also observed (ellipsoid zone width changes: -177 to -830 µ m/year). Most studies measured blindness using visual acuity; visual field-based definitions resulted in blindness by age ∼25 years. Patient-reported outcome data were limited.

Conclusion: Published evidence shows that patients with RPGR -associated XLRP experience progressive decline in visual acuity, visual field, and ellipsoid zone width, eventually resulting in blindness. Additional longitudinal data with standardized end points and expanded collection of patient-reported outcomes are needed to assess visual decline in RPGR -associated XLRP.

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Conflict of interest statement

B. L. Lam reports consulting fees from Biogen, BlueRock, and Janssen Pharmaceuticals. B. L. Lam reports receiving grant support from the Foundation Fighting Blindness, National Eye Institute, Applied Genetic Technologies Corporation, Biogen, Editas, Endogena, Nanoscope, Ocugen, Pixium, and Spark. B. L. Lam is also part of the Data and Safety Monitoring Committee for Lexitas. H. P. N. Scholl is supported by the Swiss National Science Foundation (Project funding: “Developing novel outcomes for clinical trials in Stargardt disease using structure/function relationship and deep learning” #310030_201165, and National Center of Competence in Research Molecular Systems Engineering: “NCCR MSE: Molecular Systems Engineering (phase II)” #51NF40-182895), the Wellcome Trust (PINNACLE study), and the Foundation Fighting Blindness Clinical Research Institute (ProgStar study). H. P. N. Scholl served on a scientific advisory board for Boehringer Ingelheim Pharma GmbH & Co; Claris Biotherapeutics Inc; Eluminex Biosciences; Gyroscope Therapeutics Ltd; Janssen Research & Development, LLC (Johnson & Johnson); Novartis Pharma AG (CORE); Okuvision GmbH; ReVision Therapeutics Inc; and Saliogen Therapeutics Inc. H. P. N. Scholl is a consultant of Alnylam Pharmaceuticals Inc; Gerson Lehrman Group Inc; Guidepoint Global, LLC; and Intergalactic Therapeutics Inc. H. P. N. Scholl is a member of the Data Monitoring and Safety Board/Committee of Belite Bio (CT2019-CTN-04690-1), F. Hoffmann-La Roche Ltd (VELODROME trial, NCT04657289; DIAGRID trial, NCT05126966; HUTONG trial) and a member of the Steering Committee of Novo Nordisk (FOCUS trial; NCT03811561). All arrangements have been reviewed and approved by the University of Basel (Universitätsspital Basel) and the Board of Directors of the Institute of Molecular and Clinical Ophthalmology Basel in accordance with their conflict of interest policies. Compensation is being negotiated and administered as grants by Universitätsspital Basel, which receives them on its proper accounts. H. P. N. Scholl is codirector of the Institute of Molecular and Clinical Ophthalmology Basel, which is constituted as a nonprofit foundation and receives funding from the University of Basel, the University Hospital Basel, Novartis, and the government of Basel-Stadt. D. Doub is an employee of Lumanity Communications Inc., which received funding from Janssen to conduct this analysis. M. Sperling, M. Hashim, and N. Li are employees of Janssen and are shareholders of Johnson & Johnson.

References

    1. Ferrari S, Di Iorio E, Barbaro V, et al. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics 2011; 12:238–249.
    1. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006; 368:1795–1809.
    1. Chivers M, Li N, Pan F, et al. The burden of x-linked retinitis pigmentosa on patients and society: a narrative literature review. Clinicoecon Outcomes Res 2021; 13:565–572.
    1. Tee JJ, Smith AJ, Hardcastle AJ, Michaelides M. RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol 2016; 100:1022–1027.
    1. Mansouri V. X-linked retinitis pigmentosa gene therapy: preclinical aspects. Ophthalmol Ther 2023;12:7–34.

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