Table 2.
Basic characteristics of studies reporting on humanistic burden of LOPD
| 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 |
‘ERT-transition’ studies refer to those initiated before the approval of ERT but continuing into the post-ERT era
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
IPA: International Pompe Association; LOPD: Late-onset Pompe disease; LSD: Lysosomal storage disorders; MC: Medical center; RCT: Randomized controlled trial