Table 2.
Included studies
| Author & year | Study type | Country | LSD type |
Total study sample size |
Children ( <=10 years) |
Adolescents (11-17) |
Adults (18+) |
Method of HRQoL measurement (e.g. self, proxy) |
|---|---|---|---|---|---|---|---|---|
| Adam et al. 2019 [18] | Cohort study | UK | Alpha-mannosidosis | 9 | Y | Y | Y | Self & proxy |
| Alaei et al. 2021 [19] | Clinical trial | Iran | Morquio syndrome (MPS IVA) | 10 | Y | N | N | Proxy (parent) |
| Aldenhoven et al. 2017 [20] | Cohort study | Multi-centre - 7 European transplant centres (unspecified) | Hurler syndrome (MPS IH) | 63 | Y | Y | Y (Max 18) | Proxy (parent) |
| Ali et al. 2021 [21] | Cross-sectional | USA | Fabry disease | 69 | N | N | Y | Self |
| Alioto et al. 2020 [22] | Cross-sectional | USA, Pakistan, Israel, Tunisia, Turkey | Gaucher disease type 1 (GD1) & Fabry disease | 32 with GD | Y | Y | Y | Self & Proxy (parent) |
| Arends et al. 2018 [23] | Cohort study | Multicentre - Netherlands and UK | Fabry disease | 286 | N | N | Y | Self |
| Aston et al. 2019 [24] | Tool development | UK | Niemann-Pick disease type C (NPC) | 43 | Y | Y | Y | Proxy (parent) |
| Avenali et al. 2019 [25] | Cohort study | UK | Gaucher disease type 1 (GD1) | 90 (N=90 N=31 patients with Gaucher disease type 1 (GD); N=29 GBA1 heterozygous carriers (Het GBA group);N=30 controls (HC)) | ? | ? | Y | Self |
| Barba-Romero et al. 2019 [26] | Cross-sectional | Spain | Fabry disease | 33 | N | Y (Min 17) | Y | Self |
| Bitirgen et al. 2021 [27] | Cross-sectional | Unspecified | Fabry disease | 28 (N=14 Patients, N=14 controls) | ? | ? | Y | Self |
| Borgwardt et al. 2018 [28] | Cohort study | Denmark | Alpha-mannosidosis | 33 | Y | Y | Y | Proxy (parent / caregiver) |
| Bremova-Ertl et al. 2022 [29] | Clinical trial | Germany, Slovakia, Spain, USA & UK | Niemann-Pick disease type C (NPC) | 33 | Y | Y | Y | Self |
| Chen et al. 2021 [30] | Case control study | USA and Japan | Morquio syndrome (MPS IVA) | 161 | Y | Y | Y | Self / Proxy (family) |
| Chen et al. 2021 [31] | Cross-sectional | China | Pompe disease (late onset) (LOPD) | 68 | N | N | Y | Self |
| Cleary et al. 2021 [32] | Cohort study | England | Morquio syndrome (MPS IVA) | 55 | Y | Y | Y | Self or Proxy (parent / caregiver) |
| Cohen et al. 2020 [33] | Cohort study | Unspecified | Gaucher disease | 48 | N | N | Y | Self |
| de Oliveira Freitas et al. 2017 [34] | Cohort study | Brazil | Gaucher disease | 17 | N | Y | Y | Self |
| Demaret et al. 2021 [35] | Cohort study | France | Wolman disease | 5 | Y | N | N | Self & Proxy (parent) |
| Devigili et al. 2017 [36] | Cross-sectional | Italy | Gaucher disease type 1 (GD1) | 25 | N | N | Y | Self |
| Dinur et al. 2020 [37] | Cross-sectional | Israel | Gaucher disease type 1 (GD1) | 192 | N | N | Y | Self |
| Dutra-Clarke et al. 2021 [38] | Cohort study | USA | Fabry disease | 26 | Y (Min 10) | Y | Y | Self |
| Elstein et al. 2022 [39] | Tool development | Development - Israel; Content validitiy - USA, France & Israel; Psychometric validation - UK | Gaucher disease type 1 (GD1) | 33 (content validation); 46 (psychometric validation) | N | N | Y | Self |
| Forstenpointner et al. 2019 [40] | Cross-sectional | Unspecified | Fabry disease | 183 (Total split into likelihood of Fabry disease N=40 likely, N=96 possible and N=47 unlikely; includes N=4 with Fabry (diagnosed)) | ? | ? | Y | Self |
| Gaisl et al. 2020 [41] | Cohort study | Switzerland | Fabry disease | 156 (N=52 patients matched with 104 healthy adult controls) | N | N | Y | Self |
| Ganz et al. 2017 [42] | Cohort study | USA, Canada | Gaucher disease type 1 (GD1) | 133 | N | N | Y | Self |
| Haller et al. 2019 [43] | Clinical trial | Participants from USA, Mexico, Brazil or Portugal - completed at USA site | Sly syndrome (MPS VII) | 12 | Y | Y | Y | Unspecified |
| Hamed et al. 2019 [44] | Cohort study | USA | Pompe disease (late onset) (LOPD) | 29 | N | N | Y | Self |
| Harfouche et al. 2020 [45] | Cross-sectional | USA | Pompe disease (late onset) (LOPD) | 30 | N | N | Y | Self |
| Harmatz et al. 2018 [46] | Clinical trial | Unspecified | Alpha-mannosidosis | 25 (rhLAMAN-05 study), + 33 (rhLAMAN-10 study) | Y | Y | Y | Unspecified |
| Holub et al. 2021 [47] | Cross-sectional | Unspecified | Fabry disease | 24 (N=12 (with FD) matched with N=12 healthy controls) | N | N | Y | Self |
| Hu et al. 2021 [48] | Cross-sectional | China | Gaucher disease; Fabry disease; Pompe disease and Mucopolysaccharidosis (type unspecified) | 31 (N=5 Gaucher, N= 14 Fabry, N=4 Pompe, N=8 Mucopolysaccharidosis) | Y | Y | Y | Self or proxy (caregiver) |
| Keidel et al. 2021 [49] | Cross-sectional | Germany | Nephropathic cystinosis (infantile) | 43 | Y | Y | Y | Self |
| Korlimarla et al. 2020 [50] | Cohort study | USA and South Africa | Pompe disease (GSD II) - infantile (IPD) and late-onset (LOPD) | 21 | Y | Y | Y (18 Max) | Proxy (parent / family) |
| Korver et al. 2020 [51] | Cross-sectional | Netherlands | Fabry disease | 81 | N | N | Y | Self |
| Koto et al. 2022 [52] | Cross-sectional | Japan | Fabry disease | 8 | Y | Y | ? | Self |
| Lehtonen et al. 2018 [53] | Cross-sectional | England | Hurler syndrome (MPS IH) | 22 | Y | Y | N | Proxy (parent) |
| Lopez et al. 2020 [54] | Cohort study | Unspecified | Gaucher disease | 18 | N | Y | Y | Self |
| Matos et al. 2019 [55] | Cross-sectional | Brazil | Hurler syndrome (MPS IH) | 22 | Y | Y | Y (21 Max) | Proxy (parent) |
| Matos et al. 2018 [56] | Cross-sectional | Brazil | Hunter syndrome (MPS II); Maroteaux-Lamy syndrome (MPS VI) | 16 | Y | Y | Y (21 Max) | Self & Proxy (parent) |
| Mattera et al. 2018 [57] | Cohort study | UK and USA | Hunter syndrome (MPS II) | 51 | Y | Y | Y | Self & Proxy (caregiver) |
| Mobini et al. 2022 [58] | Clinical trial | Iran | Niemann–Pick Disease types A and B | 5 | Y | Y (12 Max) | N | Proxy (parent) |
| Nowak et al. 2021 [59] | Cross-sectional | Germany and Switzerland | Fabry disease | 124 | N | N | Y | Self |
| Olgac et al. 2021 [60] | Cross-sectional | Turkey | Fabry disease; Gaucher disease; Hurler syndrome (MPS I); Hunter syndrome (MPS II);Maroteaux-Lamy syndrome (MPS VI) ; Pompe disease | 32 (N=19 patients and N=13 parents) | Y | Y | Y | Self & Proxy (parent) |
| Phillips et al. 2020 [61] | Cohort study | Unspecified | Alpha-mannosidosis | 33 | Y | Y | Y | Unspecified |
| Pihlstrom et al. 2021 [62] | Cohort study | Norway | Fabry disease | 36 | N | N | Y | Self |
| Pintos-Morell et al. 2018 [63] | Cohort study | Spain | Morquio syndrome (MPS IVA) | 7 | Y | Y | N | Proxy (parent) |
| Polistena et al. 2021 [64] | Cross sectional | Italy | Fabry disease | 106 | Y | Y | Y | Self or Proxy (caregiver) |
| Politei et al. 2021 [65] | Cohort study | Brazil, Argentina and Colombia | Morquio syndrome (MPS IVA) | 18 | Y | Y | Y | Unspecified |
| Qi et al. 2021 [66] | Cross-sectional | China | Gaucher disease type 1,2, 3 and unclear (GD1, GD2, GD3) | 89 (N=40 (patients), N=49 (caregiver)) | Y | Y | ? | Self & Proxy (caregiver) |
| Quijada-Fraile et al. 2021 [67] | Cross-sectional | Spain | Morquio syndrome (MPS IVA) | 33 | N | Y (Min 16) | Y | Self |
| Remor et al. 2018 [68] | Cross-sectional | Spain | Gaucher disease | 20 | Y | Y | Y (Max 18) | Self & Proxy (parent) |
| Riccio et al. 2020 [69] | Cohort study | Italy | Fabry disease | 7 | N | N | Y | Self |
| Ripeau et al. 2017 [70] | Cohort study | Argentina and Venezuela | Fabry disease | 33 | Y (Min 10) | Y | Y | Self |
| Roca-Espiau et al. 2019 [71] | Case control study | Spain | Gaucher disease type 1 and 3 (GD1; GD3) | 47 (N=27, control group of N=20 healthy matched) | N | N | Y | Self |
| Rosa 2020 [72] | Cross-sectional | Brazil | Fabry disease | 37 | ? | ? | Y | Self |
| Sadjadi et al. 2020 [73] | Cross-sectional | USA | Nephropathic cystinosis | 20 | N | N | Y | Self |
| Scheidegger et al. 2018 [74] | Cohort study | Switzerland | Pompe disease (late onset) (LOPD) | 7 | ? | ? | ? | Self |
| Sechi et al. 2020 [75] | Clinical trial | Italy | Pompe disease (late onset) (LOPD) | 13 | N | N | Y | Self |
| Sigurdardottir et al. 2021 [76] | Cohort study | Norway | Fabry disease | 43 | N | N | Y | Self |
| Suzuki et al. 2020 [77] | Cross-sectional | Japan | Hunter syndrome (MPS II) | 109 | Y | Y | Y | Self & Proxy (family) |
| Tantawy et al. 2020 [78] | Cross-sectional | Egypt | Gaucher disease type 1 and 3 (GD1; GD3) | 24 | N | Y | Y | Self |
| Vaeggemose et al. 2021 [79] | Case-control study | Denmark and Germany | Pompe disease (late onset (LOPD)) | 20 (N=10 (and N=10 matched controls)) | N | N | Y | Unspecified |
| Vallim et al. 2020 [80] | Cross-sectional and case control | Brazil | Fabry disease | 16 | N | Y (Min 17) | Y | Self |
| Vallim et al. 2019 [81] | Case-control study | Brazil | Fabry disease | 31 (N=17 (N=17 (11 classic, 6 non-classic) and control group N=14) | N | Y (Min 17) | Y | Self |
| Velicki et al. 2021 [82] | Cohort study | Unspecified | Hurler syndrome (MPS IH); Hurler-Sheie syndrome (MPS IS); Hunter syndrome (MPS II); Mucolipidosis III (ML III) | 25 (N=6 LSD: N=1 Hurler syndrome (MPS IH); N=1 Hurler-Sheie syndrome (MPS IS); N=3 Hunter syndrome (MPS II); N=1 Mucolipidosis III (ML III)) | N | Y | Y | Self |
| Von Cossel 2021 [83] | Cross-sectional | Germany | Fabry disease (non-classical variant) | 9 | N | N | Y | Self |
| Wenninger et al. 2019 [84] | Clinical trial | Germany | Pompe disease (late onset) (LOPD) | 21 | N | N | Y | Self |
| Wilke et al. 2019 [85] | Cross-sectional | Brazil | Gaucher disease type 1 (GD1) | 23 | N | N | Y | Self |
| Yuan et al. 2020 [86] | Cross-sectional | Netherlands | Pompe disease (late onset) (LOPD) | 121 | N | N | Y | Self |
Where it is unclear whether a study includes participants of a specific age range, ‘?’ is entered into the age categories