Abstract
Late-onset Pompe disease (LOPD) is a rare genetic disorder due to the absence or deficiency of acid alpha-glucosidase enzyme resulting in slowly progressing reduction of muscle strength, causing difficulties with mobility and respiration. Wearable technologies offer novel options to evaluate mobility in a real-world setting. LOPD patients self-reporting LOPD, ≥18 years, US residents, walking (with or without aid), and not on invasive ventilation were recruited for a 6- to 8-week wearable study via patient organizations. Eligible patients were shipped a wearable tracker (Fitbit One™) and completed self-assessment questionnaires. Mobility outcome measures were median step count and peak 1-min activity. In the analyses cohort (N = 29), engagement in data sharing was high (94% of patients uploaded data for more than half the study days). Mean age was 43 years, 90% were females, and 93% were diagnosed in adulthood. Mean delay in diagnosis was 10 years; most had disease onset for ≥10 years (55%); some required walking aid (17%) and breathing assistance (38%). Mean step count differed by age (20–39 years: 4071 vs. 40–69 years: 2394, p < 0.01), diagnostic delay (<10 years: 3584 vs. ≥10 years: 2232, p < 0.05), disease duration (<10 years: 4219 vs. ≥10 years: 2462, p < 0.05), and ambulatory status (aided: 1883 vs. unaided: 3408, p < 0.05). Patient-reported “fatigue and pain” score was inversely correlated with step count (Pearson’s r = −0.42, p < 0.05) and peak 1-min activity (Pearson’s r = −0.49, p < 0.01). This study illustrates a new approach to measure mobility in LOPD patients and establishes a framework for future outcomes data collection.
Highlights
Pompe disease is a rare and progressive neuromuscular disorder caused by the absence or deficiency of acid alpha-glucosidase (GAA), the enzyme required for the breakdown of glycogen
While the clinical presentation of Pompe disease is heterogeneous, it is generally classified as either infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD)
Our study found LOPD patients with a diagnosis delay of ≥10 years were less active than those who were diagnosed within 10 years of symptom onset (3548 vs. 2232, p < 0.05)
Summary
Pompe disease (acid maltase deficiency disease) is a rare and progressive neuromuscular disorder caused by the absence or deficiency of acid alpha-glucosidase (GAA), the enzyme required for the breakdown of glycogen. Glycogen accumulation in muscle cell lysosomes results in a variety of symptoms due to potentially fatal myopathy. While the clinical presentation of Pompe disease is heterogeneous, it is generally classified as either infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD). In LOPD, symptoms appear ≥1 year of age and patients experience slowly progressive limb-girdle muscle weakness and respiratory insufficiency.. In order to gain insight into the effects of LOPD on mobility, the current observational study enrolled patients for a 6- to 8-week study in which (a) patients signed-up to the website PatientsLikeMe (PLM, patientslikeme.com) to self-report their disease experience, and (b) a wearable activity tracker (Fitbit OneTM) was deployed to measure their mobility in a remote setting. The objectives were to capture real-world mobility data through a consumer wearable device in LOPD subjects to: [1] evaluate the willingness to adopt wearable devices for passive and active health monitoring and [2] explore the relationship between patient characteristics and disease experience (symptoms and impact) with device-measured mobility
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