Survey Shows Importance of Discussing, Treating Endocrine Effects of Steroids for DMD

Results from a national survey of patients with Duchenne muscular dystrophy (DMD) and their families demonstrated that patients and families want to be informed early about endocrine complications associated with prolonged exposure to standard of care glucocorticoids.¹ The findings were published online ahead of print in the journal eNeurologicalSci.

Glucocorticoids are widely used in the treatment of DMD, helping prolong patients’ life expectancy and ability to walk.² However, their use is also associated with adverse effects such as adrenal suppression, impaired growth and delayed puberty, metabolic syndrome, weight gain, and bone fragility.^1,2

“Despite these systemic side effects, there is a paucity of data in the literature addressing the DMD community’s perception and understanding of these complications,” authors of the new study wrote.¹ “Until recently, endocrine involvement within DMD multidisciplinary muscular dystrophy clinics had been limited. As a result, there may have been less emphasis on education surrounding various endocrinopathies leading to delays in treatment.”

With early intervention, the endocrine effects associated with long-term steroid use can be mitigated, the authors explained. Ensuring adequate patient education and utilizing endocrinology providers in standard clinical practice can allow for routine screening and early interventions. In the study, investigators assessed perceptions about endocrine complications in boys with DMD, as well as analyzed gaps in care and education about adverse endocrine effects.

The survey was designed for patients with DMD older than 18 years or for parents and caregivers of children with DMD, with an aim of identifying knowledge gaps and barriers to appropriate management of adverse endocrine effects. The questionnaire included 5 sections related to bone health, puberty, adrenal insufficiency, growth, and obesity and metabolic disorders.

The survey was conducted online and sent via email to members registered with Parent Project to Muscular Dystrophy, which sponsors DMD research, supports patients with DMD and their families, and maintains a national registry of patients. A total of 135 participants clicked on the survey, and 75 completed the survey. Of those, 96% (n = 71) were caregivers and 4% (n = 3) were patients. Overall, 95% of participants (n = 70) were receiving steroids, and 32% (n = 24) of those patients had been on steroids for at least 10 years. Regarding endocrinology care, 50% (n = 38) of patients were receiving regular care from an endocrinologist, and 21% (n = 16) reported never seeing an endocrinologist.

Across the 5 survey domains, endocrine complications were mostly considered extremely important or very important, although endocrine complications were reportedly not always discussed with care teams.

Bone health was discussed with 87% of patients overall and with 59% of patients at the start of steroid treatment. While 12% of patients had not discussed bone health, they responded that they would have liked to. Additionally, at least 60% of patients were diagnosed with low bone mineral density or osteoporosis.

Just over half (51%) of participants had discussed adrenal insufficiency, 4% of whom discussed it following an episode of adrenal insufficiency or while hospitalized. The 30% who reported not discussing adrenal insufficiency would have liked to learn about it.

Regarding puberty and growth, more than half of patients (58%) were prepubertal, and 20% of those patients were older than 14 years. Delayed puberty as a complication of steroids was discussed with 41% of participants at steroid initiation, while 28% reported learning about it after being on steroids for more than a year. Nearly half of patients (48%) were diagnosed with slow growth, and 24% of patients overall had never discussed the impacts steroids may have on growth but would have liked to.

More than half of participants (59%) had previously discussed obesity or diabetes, and up to 28% were diagnosed with either obesity or diabetes. Still, 24% of participants had not discussed it previously but would have liked to.

Overall, the findings emphasize the importance of education and treatment of endocrine complications resulting from steroid use in DMD. The study highlighted that although most patients experience at least 1 endocrine complication, most only recalled discussing these complications after their occurrence. Furthermore, patients reported valuing discussions of potential complications.

“There is a need to increase awareness and advocate for improvement of endocrine care, by initiating these discussions early, and expanding the DMD multidisciplinary care teams to include endocrinology,” the authors concluded. “The study underscores the need to improve delivery of care in order to meet the unique needs of this community, which is crucial in guiding patient-provider communications. It is important to include endocrinopathies and endocrine related complications as a measure in ongoing clinical trials and emerging experimental treatments.”

References

1. Galetaki D, Szymczuk V, Shi M, Merchant N. Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? results from a national survey to patients and families on endocrine complications. eNeurologicalSci. Published online June 15, 2024. doi:10.1016/j.ensci.2024.10051

2. Quattrocelli M, Zelikovich AS, Salamone IM, Fischer JA, McNally EM. Mechanisms and clinical applications of glucocorticoid steroids in muscular dystrophy. J Neuromuscul Dis. 2021;8(1):39-52. doi:10.3233/JND-200556