ESPE Abstracts

Background: In 2020, a UK wide collaborative project between clinicians and patient organisations (Funding from Duchenne UK) called DMD Care UK was launched. The project aims to define the care standards which should be implemented as a priority in all UK centres. Adapting recommendations from the 2018 international care consensus, items were highlighted and used as standards for this audit in one tertiary centre. The standards are that all boys with DMD

• Should be on vitamin D supplementation.

• Should have vitamin D levels checked every 12 months.

• Should have lateral spine imaging to identify vertebral fracture every 12 months

• On glucocorticoid therapy should have access to hydrocortisone for injection during severe acute and/or vomiting illness

• Should have pubertal assessment if aged 12 years or older.

Methods: All boys with DMD under routine clinical follow-up of the neuromuscular team in Glasgow in 2019 were identified from a departmental database. Results were presented as median (range).

Results: A total of 49 patients were identified. Forty were on GC therapy; 4/9 not on GC were GC naive. Median age of the boys was 11.5 years(3.0, 17.4). Forty-seven of 49 (96%) were prescribed vitamin D supplementation[Target 100%]. The two who were not on vitamin D supplementation were recently diagnosed. Thirty-eight of 49(78%) had vitamin D levels measured in 2019. Excluding the 4 GC naïve boys (who were only diagnosed in < 12 months from the last clinic visit in 2019), 23/45(51%) had vitamin D levels measured in 2019 and 12 months prior[Target 80%]. Thirty-six out of 49(74%) had lateral thoracolumbar spine x-ray performed in 2019. Similarly, excluding the 4 GC naïve boys, 15/45 (33%) had lateral thoracolumbar spine x-ray performed in 2019 and 12 months prior[Target 80%]. Of the 40 on GC therapy, 39(98%) has access to injectable hydrocortisone for use out of the hospital for severe and/or vomiting illness[Target 100%]. All 39 patients had receive training on injecting hydrocortisone. Of the 21 boys who were 12 years or older, all 21 boys(100%) had at least one documented assessment of puberty[Target 80%].

Conclusion: This single-centre audit of endocrine and bone monitoring in DMD showed variable degree of adherence to current international and national guidance. The audit standards and target can now be used for collecting clinical outcomes wider in the UK. Such plans are in discussion but require buy-in from numerous stakeholders.