Aim:The aim of this study was to conduct a metabolic and nutritional assessment of children with neuromuscular disorders, including the investigation of the liver and bone mineral density. Methods:In this observational study, we included 44 children with neuromuscular disorders. The nutritional status, bone health and liver were assessed by ultrasound, transient elastography, dual X-ray absorptiometry scan, blood samples, anthropometric measurements and 3-day diet registration.Results: Liver involvement was found in 31.0%: liver enlargement in 7.1%, steatosis in 4.8%, fibrosis in 14.3% and liver enlargement together with steatosis or fibrosis was found in 4.8%. These changes were found in 9/23 patients with Duchenne muscular dystrophy, 4/9 patients with spinal muscular atrophy type II and 0/12 patients with other neuromuscular diagnoses. Low bone mineral density was found in 44.0% of the patients, though the majority used daily vitamin D and calcium supplements. Vitamin D insufficiency or deficiency was found in 22.6%. Conclusion:The metabolic assessment in children with neuromuscular disorders shows an increased risk of liver enlargement, steatosis and fibrosis. Possible causes are obesity, decreased mobility, low skeletal muscle mass and for a subgroup the use of glucocorticoids. The findings suggest that monitoring liver function should be part of the nutritional assessment in patients with neuromuscular disorders.

Neuromuscular Disorders 31 (2021) S47-S162 treatment was ongoing in 7/13 patients. As of November 12, 2020, 31 patients (IV cohort, n = 23; IT cohort, n = 8) were enrolled in LT-002. One patient in each cohort reported SAEs, and one AESI was reported in the IV cohort (treatment-unrelated). None required permanent ventilation and 9 patients reported baseline respiratory support. Among patients for whom motor milestone data are available from baseline visits as of the data cutoff, 11 new milestones that were not achieved in the parent study were achieved for 4 patients, all in the IV cohort. The highest new milestone achieved in the 4 IV cohort patients was sitting without support. Enrollment is ongoing in LT-002. A single IV administration of onasemnogene abeparvovec at the therapeutic dose provided a sustained, durable response for up to 5.6 years since dosing for patients up to 6.1 years of age. There have been no reported treatment-related SAEs or AESIs, supporting a favorable benefit-risk profile.

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Neuromuscular Disorders 31 (2021) S47-S162 (CSs) therapy in patient treatment and management. Moreover, in the past few years big cohort studies of 397 and 270 individuals have further demonstrated positive effect of CSs on respiratory function by reaching higher peak FVC %predicted compared with the CSs-naïve group before the decline. The results also suggested CSs delaying the requirement for non-invasive ventilation (NIV) by approximately 2 years. However, nearly all subjects in those studies were children. Despite the extensive longitudinal data from paediatric cohorts and updated in 2018 standards of care for DMD, there is very limited evidence regarding CSs use in adults with DMD after loss of ambulation. As a result, inconsistency in clinical practice continues. The aim of this project is to evaluate the effect of long-term CSs treatment on pulmonary function in non-ambulant adults with DMD. A retrospective, clinical audit of medical notes was performed across two trusts (London and Newcastle). The data on approximately 150 non-ambulant adults with DMD will be analysed. Pulmonary function and other related measures like start of NIV will be evaluated. The findings from this project should help to recognise best clinical practice and to optimize care for non-ambulant adults with DMD living in the UK.