P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry

Pompe disease, a rare progressive neuromuscular disorder, presents as a clinical spectrum with variable severity, progression and muscle involvement. Practice guidelines with recommended musculoskeletal assessment schedules have been published. The Pompe Registry, an observational database intended to increase understanding of Pompe disease, is the largest repository of data on Pompe patients. Seven assessments evaluating muscle strength and function and motor function are collected in the Registry. In a cross-sectional analysis of Registry patients, we evaluated motor assessments performed at baseline (treatment initiation) and patient characteristics that may have influenced which/if any of the assessments were performed. Included were 437 patients (symptom onset >12 months or ⩽12 months without cardiomyopathy) ever treated with alglucosidase alfa. Almost half the patients (42%, 183/437) did not have any of the 7 assessments reported at baseline. Most patients without these assessments reported at baseline reported muscle weakness; 94% had muscle weakness in the trunk. In Europe, 212/341 (62.2%) patients had at least 1 of the 7 baseline assessments; 107/341 (31.4%) had at least 3. In the US, 26/71 (36.6%) had at least 1 of the 7; 6/71 (8.5%) had at least 3. Number of different baseline assessments increased with patient age and age at diagnosis. The 6-Minute Walk (6 MW) test was the assessment given most often at baseline (126/437). Patients with impaired ambulation were less likely to have more strenuous assessments (6 MW; Motor Functional Activities). While published guidelines provide recommended schedules for musculoskeletal assessments, they do not seem to be done consistently in clinical settings. Patients in Europe seem to be more consistently tested with these seven assessments than US patients. Guidelines need to be developed to identify the most important musculoskeletal assessments for Pompe patients to allow consistent testing and follow-up.