ESPE Abstracts

Background: Long-term use of glucocorticoid for management of Duchenne muscular dystrophy (DMD) has been standard of care for over 20 years with documented improvement in outcomes. Side-effects are common particularly endocrine and bone adverse effects. To date, there is limited information on the perception of glucocorticoid side effects by parents/guardians and those living with DMD.

Aims:

• To identify glucocorticoid side-effects investigated in published literature for boys with DMD.

• To identify the patient perception of glucocorticoid side-effects.

Methods: A systematic literature search was performed using MEDLINE, EMBASE and Cochrane Library (January 2021). An online survey was circulated via UK-based patient groups for a period of 5 weeks. Responders were asked to rate their concern of glucocorticoid side-effects on a scale of 0 to 10(0: not concerned to 10: extremely concern). Ethics approval was sought from the University of Glasgow Ethics Committee. Continuous data expressed as median (25^th,75^th centile).

Results: Sixty-one publications were identified from the systematic search. Fifty-three glucocorticoid side-effects were considered in those publications. The top three side-effects considered were: weight gain/obesity (43/61; 71%), poor growth/short stature (38/61; 62%) and blood pressure abnormalities (25/61; 41%). Thirty-three parents/guardians responded to the online survey. Median age of the person with DMD was 10 years (6,13) with median age of starting glucocorticoid at 5 years (4, 6). Thirty-one out of 33 are still on glucocorticoid; two had discontinued therapy due to concerns about side-effects and three who are still on treatment were no longer happy to continue glucocorticoid. The top three glucocorticoid side-effects experienced by the young person with DMD as reported by parents/guardians were: poor growth/short stature (25/33; 76%), cushingoid features (21/33; 64%), and weight gain/obesity (19/33; 58%). Glucocorticoid side-effects which concern parents/guardian the most were: long bone fracture [median score 9 (7,10)], vertebral fractures [median score 9 (7, 10)], weight gain/obesity [median score 8(7,9)] and delayed puberty [median score 8 (5,9)]. Glucocorticoid side-effects which concern the young person the most were: short stature [median score 7(2,9)], weight gain/obesity [median score 7(1, 8.8)] and cushingoid features [median score 5.5(1, 8.8)].

Conclusion: This study identified for the first time that endocrine/bone side effects concern parents/guardians and young people with DMD greatly. Research on therapies/DMD treatment that may eliminate or minimize such side effects are needed, strongly supported by concerns raised by the patient community.