Endocrine Abstracts

JOINT889

Objectives: Osteoporosis is a common complication in Duchenne muscular dystrophy (DMD). Current clinical guidelines focus primarily on paediatric care, with limited guidance for managing osteoporosis during the transition to adulthood and long-term management of osteoporosis therapy initiated in paediatric care.

Methods: In 2023, a UK expert working group was formed with the task of developing national expert consensus on the management of osteoporosis in adults with DMD in the adult NorthStar Network. The working group included 13 adult and 5 paediatric bone specialists, 3 adult neuromuscular clinicians (2 with paediatric experience), a clinician-scientist/densitometrist, and 3 patient representatives. Systematic and scoping reviews of osteoporosis therapies for DMD, glucocorticoid-induced osteoporosis guidelines for adults, and DXA-based fracture predictions in DMD were conducted. A survey was distributed via patient organisations to paediatric clinicians managing DMD-related osteoporosis, with focus on care during transition. Feedback on bone health management was also gathered through a focus group of adults with DMD. Four online meetings of the expert working group were held. Using a modified Delphi approach, consensus clinical recommendations were developed.

Results: Consensus recommendations were established through three Delphi voting rounds, with 80% agreement required. Thirteen clinical guidance statements were developed. Key recommendations include:

• Adults with DMD should undergo osteoporosis and fracture risk assessments, including vertebral fracture (VF) assessment and DXA bone density, if expected to influence clinical decision making.

• VF reassessments are recommended every two years for those on glucocorticoids and should be individualised for those who are not on glucocorticoid treatment and/or, those with metal instrumentation for scoliosis.

• For young people on long-term bisphosphonate therapy (>10 years) initiated in childhood and who have completed puberty, discontinuation of therapy should be considered at transition, depending on clinical risk factors. The clinical risk factors include glucocorticoid therapy, presence of VF at most recent evaluation, new VF and/or worsening VF during treatment with osteoporosis therapy or recent low trauma long bone fracture.

• Upon discontinuation of osteoporosis therapy, re-evaluation of the need to re-initiate osteoporosis treatment is recommended if low trauma fractures are sustained off treatment or if there is significant bone density decline, or at two years post-discontinuation.

Conclusion: Using a Delphi-based systematic process, this UK expert working group developed national consensus guidance for managing osteoporosis in adults with DMD. These recommendations address critical gaps in care during the transition from paediatric to adult services, ensuring a comprehensive and individualised approach to bone health management.