US Health Resource Utilization and Cost Burden Associated with Choroideremia

Abstract

Purpose Choroideremia is a progressive, inherited retinal dystrophy that leads to blindness. This study of choroideremia addresses health resource utilization (HRU) and costs from a US payor perspective using insurance claims data. The retrospective analysis used data between January 2013 and December 2018 from the IBM MarketScan Commercial, Medicare Supplemental, and Multi-State Medicaid Databases. Patients and Methods Patients having ≥1 claim with an International Classification of Diseases, Ninth or Tenth Edition, diagnostic code for choroideremia (363.55/H31.21) were included; a control group was matched 3:1 to the choroideremia group. Patients were followed for ≥6 months. All-cause HRU and costs were compared between cohorts using generalized linear models adjusted for Charlson Comorbidity Index. Results There were 199 and 597 patients in the choroideremia and control groups, respectively; the choroideremia group had a higher mean baseline Charlson Comorbidity Index (0.47 vs 0.26). The choroideremia group had a significantly greater mean number of hospital admissions (0.09 vs 0.06), outpatient visits (22.33 vs 11.22), and emergency department visits (0.41 vs 0.26) per patient per year than the control group. The choroideremia cohort had higher all-cause total annualized costs than the control cohort ($15,372 vs $9285), primarily driven by outpatient visits ($8306 vs $4702). This trend was observed across age categories, particularly among patients aged 20 to 44 years (choroideremia, $14,544 vs control, $5953). Conclusion The choroideremia group had higher all-cause HRU and total costs versus the control group. These findings provide economic context around HRU associated with choroideremia and help assess the potential impact of novel treatments.

Choroideremia – A clinical insight and differential diagnosis

“…Due to the nature of XLR pattern in choroideremia, male patients predominantly show the representative aspects of early night blindness during the first decade of childhood that progress into severe peripheral vision loss followed by legal blindness in late adulthood around the fifth to sixth decades [6-8, 11, 12]. However, even if female carriers remain mostly asymptomatic, they can suffer from nyctalopia and show evidence of pigmentary changes and chorioretinal degeneration in the fundus with associated subnormal visual sensitivity [6][7][8][12][13][14][15]. However, the chorioretinal degeneration found in female carriers is not noticeable until characteristically the 3rd-4th decade [14].…”

“…A ring-like perimacular scotoma that progresses into the peripheral visual field throughout life with corresponding visual field loss (peripheral constriction) can be documented [1,3,7,12]. This ring scotoma in general follows changes in the fundus appearance so that it matches areas of chorioretinal degeneration, eventually resulting in tunnel vision [1].…”

“…Choroideremia, which is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), is an X-linked recessive (XLR) inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood [1][2][3][4][5][6][7]. It manifests as a progressive degenerative disorder of the photoreceptor layer, retinal pigment epithelium (RPE), and choroid [1,6,8].…”

The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study

“…Information on the total cost of IRDs, including use of health and social services, education, employment and income, is limited 10,12 . In the United States, mean annual health care costs for people with IRDs were US$7317 higher than for the general population, 13 but this estimate, like those of other overseas studies, 14,15 did not take all health care (eg, allied health, vision aids) and other costs into account.…”