Background: Standard glucocorticoid therapy in CAH often fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes, particularly in adolescents. Efmody, a MRHC, has recently been licensed for CAH patients aged >12 years following a phase 3 study by Merke et al., 2021 demonstrating improved biochemical control in adults, steroid dose reduction over time, and patient-reported benefit.
Aim: To describe our initial experience of Efmody in CAH patients >12 years in a tertiary paediatric endocrine centre.
Methods: Retrospective clinical data was collected in CAH patients, started on Efmody since July 2022. Paired biochemical parameters before and 6 months post-treatment were either paired serum 17OHP, serum androstenedione, or capillary morning 17OHP levels.
Results: Efmody was started in 13 patients with salt-wasting CAH (69.2% females). Mean age and dose were 16.2 (range 12.1-20.7 years) and 11.8 (range 8.3-15.5 mg/m2/day) respectively. Paired biochemical data was available in 9/13 patients and 7/9 patients showed improvement in at least one of the parameters. Paired serum 17OHP levels were significantly lower post-treatment compared to baseline (19.9 vs 161 nmol/L, P<0.05) in 5 patients. Paired morning capillary 17OHP levels were significantly lower post-treatment compared to baseline (365.5±268.2 vs 32.4±28.8 nmo/L, P=0.04) in 4 patients. Paired serum androstenedione levels were significantly lower post-treatment (5.2±5 nmol/L) compared to baseline 17.9±10.9 nmol/L (P=0.04) in 5 patients. All 13 patients provided feedback in the clinic and 6/13 patients provided more detailed telephone feedback. 12/13 patients preferred twice daily dosing regimen particularly not having to dose during the day at school/college. 12/13 patients reported feeling better in the morning on Efmody. 3 females started on Efmody at 13 years started periods. Two patients found it inconvenient that they had to avoid eating in the evening after taking Efmody.
Conclusions: 6 months of Efmody therapy improved 17OHP and androstenedione levels, also suggesting potential for reduction of overall glucocorticoid dose. Efmody was popular among adolescents because of convenience and feeling better in the morning. This supports the need for further systematic evaluation in a larger cohort.
08 Nov 2023 - 10 Nov 2023