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Med."],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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, \u226518 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\u2122) and completed self-assessment questionnaires. Mobility outcome measures were median step count and peak 1-min activity. In the analyses cohort (<jats:italic>N<\/jats:italic>\u2009=\u200929), 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 \u226510 years (55%); some required walking aid (17%) and breathing assistance (38%). Mean step count differed by age (20\u201339 years: 4071 vs. 40\u201369 years: 2394,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01), diagnostic delay (&lt;10 years: 3584 vs. \u226510 years: 2232,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), disease duration (&lt;10 years: 4219 vs. \u226510 years: 2462,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), and ambulatory status (aided: 1883 vs. unaided: 3408,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). Patient-reported \u201cfatigue and pain\u201d score was inversely correlated with step count (Pearson\u2019s<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.42,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) and peak 1-min activity (Pearson\u2019s<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.49,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.01). This study illustrates a new approach to measure mobility in LOPD patients and establishes a framework for future outcomes data collection.<\/jats:p>","DOI":"10.1038\/s41746-019-0143-8","type":"journal-article","created":{"date-parts":[[2019,7,22]],"date-time":"2019-07-22T13:03:39Z","timestamp":1563800619000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mobility assessment using wearable technology in patients with late-onset Pompe disease"],"prefix":"10.1038","volume":"2","author":[{"given":"Alaa","family":"Hamed","sequence":"first","affiliation":[]},{"given":"Christopher","family":"Curran","sequence":"additional","affiliation":[]},{"given":"Chad","family":"Gwaltney","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8242-0580","authenticated-orcid":false,"given":"Pronabesh","family":"DasMahapatra","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2019,7,22]]},"reference":[{"key":"143_CR1","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1016\/j.bbadis.2014.06.031","volume":"1852","author":"C Angelini","year":"2015","unstructured":"Angelini, C. 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P.D. was an employee at PatientsLikeMe and owns stocks in the company. C.C. was an employee at PatientsLikeMe and owns stock options in the company. C.G. is an employee at Gwaltney Consulting and received funding for this research from Sanofi Genzyme. The PatientsLikeMe Research Team has received research funding (including conference support and consulting fees) from Abbvie, Accorda, Actelion, Amgen, AstraZeneca, Avanir, Biogen, Boehringer Ingelheim, Genzyme, Genentech, Janssen, Johnson & Johnson, Merck, Novartis, Pfizer, Sanofi, Takeda and UCB. The PatientsLikeMe R&D team has received research grant funding from Kaiser Permanente, the Robert Wood Johnson Foundation, Sage Bionetworks, The AKU Society, and the University of Maryland.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"70"}}