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Potential lifetime quality of life benefits of choroideremia gene therapy: projections from a clinically informed decision model

2019; Springer Nature; Volume: 33; Issue: 8 Linguagem: Inglês

10.1038/s41433-019-0492-1

1476-5454

Celine-Lea Halioua-Haubold, Jasleen K. Jolly, James Smith, Rafael Pinedo‐Villanueva, David Brindley, Robert E. MacLaren,

Retinal Diseases and Treatments

Upon completion of this activity, participants will be able to: In support of improving patient care, this activity has been planned and implemented by Medscape, LLC and Springer Nature. Medscape, LLC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Medscape, LLC designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 1.0 Release date: 17 July 2019 Expiration date: 17 July 2020 Post-test link: https://medscape.org/eye/posttest913835 Sobha Sivaprasad has disclosed the following relevant financial relationships: Served as an advisor or consultant for Allergan, Bayer, Boehringer Ingelheim, Roche, Heidelberg, Optos. Served as a speaker or a member of a speakers bureau for Bayer, Allergan, Novartis, Optos. Received grants for clinical research from: Bayer, Boehringer Ingelheim, Allergan, Novartis, Optos. REM has disclosed the following relevant financial relationships: Served as an advisor or consultant for Nightstar Therapeutics plc; Spark Therapeutics, Inc. Served as a speaker or a member of a speakers bureau for Nightstar Therapeutics plc. Received grants for clinical research from Nightstar Therapeutics plc. CLHH, JKJ, JAS, RPV, and DAB have disclosed no relevant financial relationships. Laurie Barclay, MD: freelance writer and reviewer. Laurie Barclay, MD, has disclosed no relevant financial relationships. The first gene therapy for an inherited retinal dystrophy recently received market approval in the United States; multiple other gene therapies are in the clinical pipeline. Thus far, gene therapy has commanded prices in the range of $500,000 to over $1,000,000 for the one-time doses and have been indicated for highly orphan diseases where there is no other viable treatment option. To be adopted by healthcare systems, gene therapy will need to show clinical benefit in line with its increased costs. Before longitudinal patient studies are available, model-based estimations will be necessary to project the full clinical benefit of gene therapy. To investigate the lifetime benefit of gene therapy for the retinal dystrophy choroideremia, we have built a Markov model of disease progression informed by clinical data of AAV.REP1 and voretigene neparvovec (Luxturna, Spark Therapeutics). Gene therapy patient benefit was estimated by quality-adjusted life years (QALYs) in three hypothetical disease severity patient groups. The severity of disease was defined by the combined effect of remaining retinal area and visual acuity and assigned corresponding health utility values. Early-stage patients treated with gene therapy were estimated to gain, in average, 14.30 QALYs over standard-of-care, mid-stage patients 6.22 QALYs, and late-stage patients 1.48 QALYs over untreated patients during their lifetime owing to treatment. Cost-effectiveness was not assessed as AAV.REP1 is still in clinical trials. In young adults in the earlier stages of choroideremia, successful gene therapy is expected to provide a significant increase in health-related quality of life.