Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study.

introductionAchondroplasia is the most common skeletal dysplasia associated with disproportionately short stature and is associated with high disease burden and unmet medical need. However, the clinical and economic burden of achondroplasia remains unclear. This study assessed clinical and economic burden of achondroplasia in US clinical practice.

methodsThis retrospective study assessed people with ≥ 1 inpatient or ≥ 2 outpatient claims with primary diagnosis codes for achondroplasia using Optum’s deidentified Clinformatics® Data Mart Database (October 1, 2015, to October 1, 2023). Index date for the achondroplasia cohort was date of first achondroplasia diagnosis code. People living with achondroplasia were matched 1:5 with nonachondroplasia controls on age, sex, index date (matched by calendar date), and observation duration. Individuals required ≥ 12 months continuous post-index health plan enrollment. Per person-year (PPY) comorbidities, healthcare resource utilization (HCRU), and costs were stratified by age (< 18 and ≥ 18 years). Outcomes were assessed in a subgroup with achondroplasia and spinal stenosis (Ach-SpS). Continuous and categorical variables were compared using t tests and chi-square tests, respectively. HCRU and costs were assessed using generalized linear models.

resultsOverall, 626 people living with achondroplasia were matched with 3,130 nonachondroplasia controls (mean [SD] age, years: 33.2 [24.4] vs. 33.1 [24.3]; 56.2% females in both). Skeletal and extraskeletal comorbidities occurred significantly more frequently in people with achondroplasia than in nonachondroplasia controls (P<0.01). HCRU incidence was higher in people with achondroplasia; inpatient admissions were 0.30 vs. 0.09 PPY (pediatrics) and 0.39 vs. 0.21 PPY (adults) (both P<0.01). People with achondroplasia had higher total healthcare costs than nonachondroplasia controls (pediatrics: $31,388 vs. $4,164 PPY; adults: $33,360 vs. $16,887 PPY), driven mainly by inpatient admissions (pediatrics: $12,232 vs. $1,170 PPY; adults: $16,703 vs. $5,207 PPY). Incidence of outpatient visits (17.47 PPY), inpatient admissions (0.52 PPY), and total healthcare costs ($45,990) were higher in people living with Ach-SpS than in the overall achondroplasia cohort.

conclusionAchondroplasia imposes substantial clinical and economic burden in people across age groups in US clinical practice; this burden is elevated in people living with Ach-SpS. These data emphasize the unmet medical need for more effective disease-modifying therapies for achondroplasia. CLINICAL TRIAL NUMBER: Not applicable.