Treatment patterns and health states in classic congenital adrenal hyperplasia: analysis of the CAHtalog® registry

Background All patients with classic congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) therapy to replace deficient cortisol. However, patients often require supraphysiologic doses to reduce excess ACTH and androgen exposure. These analyses assess longitudinal real-world treatment patterns and changes in health states among patients with CAH enrolled in the CAHtalog registry. Methods Deidentified medical records from pediatric (<18 years) and adult (≥18 years) patients were analyzed for GC treatment patterns (e.g., regimen, dose, and dosing frequency). Changes in health state were also evaluated in patients with ≥3 GC dose records matched to an androstenedione assessment. Results Treatment pattern analyses included 98 patients (61 pediatric, 56 adult; 19 both) and health state analyses included 63 (44 pediatric, 33 adult; 14 both). Hydrocortisone monotherapy was the most common in both pediatric (92%) and adult (71%) patients. The highest median GC doses occurred with dexamethasone monotherapy in pediatric patients (13.3 [13.2-20.3] mg/m 2 /d hydrocortisone equivalents [HCe]) and prednisone monotherapy in adult patients (31.8 [23.5-40.0] mg/d HCe). Among patients with ≥3 matched GC-androstenedione records, 89% experienced ≥1 health state transition and 59% experienced ≥3. Most patients (95%) had a matched assessment with higher GC doses and/or higher androstenedione at least once during follow-up, and the majority (58%) of matched records were in these states. Conclusions Longitudinal data from the CAHtalog registry showed that patients frequently experienced high GC doses and multiple health state transitions, highlighting the need for therapies that control androgens while reducing GC burden.