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Table 2 Basic characteristics of studies reporting on humanistic burden of LOPD

From: The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

Publication Quality rating Study design Geographic region Population (sample size) Disease severity ERT status
Angelini 2009 [25] 5/9 Prospective cohort Italy Symptomatic LOPD patients recruited from three collaborating University Centers (n = 11) Symptomatic (≥2 on the Gardner-Medwin and Walton functional scale) ERT
Aslan 2016 [26] 6/9 Prospective cohort Turkey Subjects with a genetically confirmed diagnosis of LOPD (n = 8) Not stated ERT
Boentert 2015 [34] 7/9 Cross-sectional Germany LOPD patients recruited from specialized outpatient clinics at three neuromuscular centers (n = 65) Not stated (outpatients) ERT
Freedman 2013 [35] 3/9 Cross-sectional Australia LSD patients selected through purposive criterion sampling representing patients receiving ERT to treat a LSD, siblings and parents (9 parents, 4 patients, 3 siblings) Not stated ERT
Furusawa 2012 [40] NA Case series Japan Patients with LOPD who had undergone ERT at the National Center Hospital (n = 5) Wheelchair bound (n = 4) or able to stand for a few minutes (n = 1) ERT
Güngör 2013 [36] 8/9 Cross-sectional Germany, Netherlands LOPD patients recruited through the German patient organization or through Erasmus MC in The Netherlands (n = 124) Full range of severities (mild to fully wheelchair/ventilator dependent) ERT
Güngör 2016 [29] 3/9 Prospective cohort Australia, Canada, France, Germany, Netherlands, US, UK, others Child and adult Pompe disease patients included through national support groups (n = 174) Full range of severities (mild to fully wheelchair/ventilator dependent) ERT-transition (minimum 6 months follow-up before and after ERT)
Hagemans 2007 [33] 5/9 Cross-sectional Multiple countries LOPD patients recruited through patient organizations affiliated with the IPA (n = 257) Full range of severities (mild to fully wheelchair/ventilator dependent) No ERT
Hagemans 2004 [32] 5/9 Cross-sectional Australia, Germany, the Netherlands, the UK, the US LOPD (n = 210) Full range of severities (mild to fully wheelchair/ventilator dependent) No ERT
Kanters 2013 [37] 5/9 Cross-sectional Netherlands All patients at the Center for Lysosomal and Metabolic diseases in Rotterdam receiving informal care plus one caregiver per patient (67 patients; 67 informal caregivers) Range ERT
Karabul 2014a [38] 3/9 Cross-sectional UK Adult LOPD patients (n = 25) Not stated ERT
Karabul 2014b [39] 6/9 Cross-sectional Germany Adult LOPD patients (n = 73) Not stated ERT
Regnery 2012 [27] 5/9 Prospective cohort Germany Adult LOPD patients from university-based centers (n = 38) Various ERT
Strothotte 2010 [28] 6/9 Prospective cohort Germany LOPD patients treated in participating German university-based centers (n = 44) Various ERT
Van Capelle 2008 [41] 5/9 Case series Netherlands Two severely affected LOPD patients and one moderately affected LOPD patient (n = 3) Moderate (n = 1) to severe (n = 2) ERT
van der Meijden 2015 [30] 7/9 Prospective cohort Australia, Canada, France, Germany, Netherlands, US, UK, others Child and adult Pompe disease patients included through national support groups (n = 408) Full range of severities (mild to fully wheelchair/ventilator dependent) ERT-transition
van der Ploeg 2010 [31] 7/9 RCT US and Europe (eight centers) LOPD patients, 8 years of age or older, ambulatory, and free of invasive ventilation (n = 90) Range (excluded if invasive ventilation or if required noninvasive ventilation while awake and upright) ERT
  1. ‘ERT-transition’ studies refer to those initiated before the approval of ERT but continuing into the post-ERT era
  2. Quality rating refers to a quality score assigned to each publication considering characteristics that could introduce bias, using the following tools: 1) Newcastle-Ottawa Scale for cohort studies and case-control studies [22]; 2) Adapted Newcastle-Ottawa Scale for cross-sectional studies [22]; 3) AMSTAR measurement tool for reviews [23]; 4) Cochrane risk of bias assessment tool for randomized controlled trials [24]. The maximum score for the Newcastle-Ottawa Scale is 9
  3. IPA: International Pompe Association; LOPD: Late-onset Pompe disease; LSD: Lysosomal storage disorders; MC: Medical center; RCT: Randomized controlled trial