Table 1 Characteristics of included studies
Study | Year | Country/Region | Design | Population | Disease | Scale | Intervention | Outcome |
|---|---|---|---|---|---|---|---|---|
Saccà (2023) [14] | 2023 | Multiple | RCT | 129 | MG | MG-QOL15, ED-5D-3L, VAS, QMG | Treatment | Significant improvements in MG-specific clinical scale scores; Significant improvements in HRQoL measures that were maintained in the second treatment cycle; Improvement in HRQoL paralleled changes in immunoglobulin G level |
Kreuter (2020) [15] | 2020 | Germany | Post-hoc analyses in INPULSIS® trials | 1061 | IPF | SGRQ, UCSD-SOBQ, EQ-5D VAS, CASA-Q | Treatment | Greater decline in FVC % predicted over 52 weeks was associated with significant worsening of HRQoL & symptoms; Nintedanib slowed deterioration in several PROs compared to placebo, with the most significant benefit observed on the SGRQ |
Kamath (2023) [38] | 2023 | Canada | Analysis from the ICONIC trial | 27 | Alagille syndrome | PedsQL, MFSS | Treatment | Responders showed a mean change in Multidimensional Fatigue score compared to nonresponders; Changes in PedsQL Generic core and Family Impact scores were smaller and not significant; Responders' Family Impact scores increased compared with nonresponders |
Goeldner (2022) [19] | 2022 | Multiple | RCT | 170 | Down syndrome | BRIEF-P, CELF-4, PedsQL | Treatment | Participants showed improvement on the primary composite endpoint across treatment arms; No significant differences between placebo and Basmisanil-treated groupss in individual measures |
Chang (2020) [18] | 2020 | China | RCT | 15 | PKAN | PedsQL | Treatment | Quality of life of family members improved after pantethine treatment; Quality of life of patients remained unchanged at week 24 |
Boon (2020) [8] | 2020 | Europe | open label clinical trial | 171 | CF | CF-PedsQLGI, CFQR, CFAbd-Score, VAS | Treatment | Self-reported CF-PedsQL-GI scores improved significantly from month 0 (M0) to month 6 (M6); Parents reported similat improvements; Patients with lower baseline CF-PedsQL-GI scores showed greater improvement at M6 |
Vissing (2020) [13] | 2020 | Multiple | RCT | 117 | MG | MG-QOL15, MG-ADL | Treatment | Eculizumab-treated patients achieved 'minimal symptom expression' compared to placebo; During the open-label extension, patients in the placebo/eculizumab group achieving 'minimal symptoms expression' increased after eculizumab treatment; Patients in the eculizumab/eculizumab and placebo/eculizumab groups achieved 'minimal expression' at extension study week 130 |
Arnold (2018) [20] | 2018 | Canada | Analysis from the faSScinate trial | 87 | SSc | HAQ-DI, VAS | Treatment | 33% of patients achieved PASS for all three PASS questions, increasing to 69%, 71%, and 78% at 96Â weeks; Changes in PASS scores exhibited moderately negative correlations with HAQ-DI and patients and physician global assessments, indicating expected improvements with improved PASS |
Statland (2012) [25] | 2012 | Multiple | RCT | 59 | NDMs | INQOL-QOL, SF-36 | Treatment | Mexiletine improved patient-reported severity score stiffness on the IVR diary compared to placebo; Mexiletine improved the INQOL-QOL score and decreased handgrip myotonia on clinical examination |
Heřmánková (2023) [17] | 2023 | Czech Republic | Pilot study | 16 | SSc, IIM | SQoL-F, HAQ, SF-36, BDI-2 | Physical therapy | Significant improvements were observed in the total scores of FSFI and BISF-W; Functional status and the physical component of QoL in intervention group improved compared to control group |
Cella (2018) [11] | 2018 | USA, Europe | RCT | 135 | NETs | QLQ-C30, QLQ-GINET21 | Treatment | DRs during the DBTP showed greater symptom improvements and maintained more meaningful QoL improvements compared to DBTP-NDRs |
Wilson (2024) [39] | 2024 | Europe, USA | Cross-sectional study | 61 | PNH | FACIT-Fatigue, EQ-5D-5L, SF-36 | Treatment | Physician-perceived fatigue was lower, and HRQoL was better in patients; High treatment satisfaction (> 90%) was reported by both physicians and patients; PEG was preferred over previously prescribed C5 complement inhibitors |
Lumry (2021) [12] | 2021 | Multiple | RCT | 126 | HAE | AE-QoL, HAE-QoL, EQ-5D, HADS, WPAI, TSQM | Treatment | Patients receiving C1-INH(SC) 60 IU/kg demonstrated significant improvement in EQ-5D & VAS; Significant improvements observed in HADS anxiety and depression scales, WPAI-assessed presenteeism work productivity loss, and activity impairment; Clinically important improvements achieved in > 25% of patients for all domains except WPAI-assessed absenteeism; Mean Ae-QoL total score indicated less impairment, and mean HAE-QoL global scores were close to the maximum possible score |
van Egmond (2017) [14] | 2017 | Netherlands | Observational prospective study | 4 | NSPME | PedsQL, UMRS | Atkins diet | Considerable improvement in HRQoL in one patient, sustained improvement during long-term follow-up; HRQoL remained unchanged in 3 patients, who discontinued the diet; Seizure frequency remained stable, modest improvement in blinded rating of myoclonus in all patients |
Kim (2012) [40] | 2012 | South Korea | Observational study | 22 | Achondroplasia | RSS, SF-36, PedsQL | Surgical intervention | The surgical group exhibited higher Rosenberg self-esteem scores compared to the nonsurgical group; There were no differences in AAOS and SF-36 scores; Self-esteem scores decreased with an increase in the number of complications |
Gloeckl (2020) [41] | 2020 | Germany | Prospective observational study | 58 | LAM | 6MWD, SF-36 | Rehabilitation | Following PR, there was a significant increase in exercise performance; Significant improvement in quality of life |
De Luca (2020) [42] | 2020 | Italy | Prospective observational study | 12 | BD | BDQOL, BSAS, VAS, BDCAF | Treatment | Significant reduction in number of OUs after 12Â weeks of apremilast treatment; Improvement in disease activity: BSAS, BDCAF score, VAS pain score, and BDQOL; Clinical improvement led to complete steroid discontinuation in 6 patients & prednisone dose tapering in 2 patients |
Gelbard (2020) [43] | 2020 | USA | cohort study | 810 | iSGS | VHI-10, EAT-10, SF-12 | Surgical intervention | Cox proportional hazards regression models showed ED was inferior to ERMT; Patients treated with CTR had the best Clinical COPD questionnaire and SF-12 scores, but worst Voice Handicap Index-10 score |
Rombach (2013) [44] | 2013 | Netherlands | Cost-effectiveness analysis | 142 | Fabry disease | EQ-5D | Treatment | Untreated Fabry patients over a 70-year lifetime generate 55.0 years free of end-organ damage and 48.6 QALYs; Starting ERT in symptomatic patients increases the number of years free of end-organ damage by 1.5 years, with a similar increase in QALYs; Costs of ERT starting in the symptomatic stage range between €9-€10 million during a patient's lifetime |
Cleary (2021) [16] | 2021 | UK | follow-up analysis | 55 | MPS | MPS-HAQ, EQ-5D-5L, APPT, BPI, BDI, 6MWT | Treatment | Mean 6-min walk test distance increased from 217Â m at baseline to 244Â m after a mean follow-up of 4.9Â years; Improvement or stabilisation was observed regardless of age at treatment initiation or duration of treatment; Mean forced vital capacity and forced expiratory volume in 1Â s showed improvement from baseline to follow-up; PRO data demonstrated overall improvements over time |
de Hosson (2019) [35] | 2019 | Netherlands | RCT | 91 | NET | QLQ-INFO25 | Support system | There was no significant difference in distress, perception of information, or satisfaction between the intervention and control groups; Access to WINS did not provide additional value compared to standard care |
Hammer (2018) [37] | 2018 | Belgium | RCT | 19 | SFVM | SF-36, PEDSQL, VAS | Treatment | Patients showed significant and rapid improvement in symptoms and quality of life; Sirolimus treatment enabled sclerotherapy and surgery in 2 patients who initially deemed unsuitable for these interventions |
Riera (2011) [28] | 2011 | Brazil | RCT | 24 | SSc | HAQ | Treatment | No significant difference b/t the lidocaine and placebo groups for any outcome after treatment and 6-month follow-up; Reported improvement in modified Rodman skin score in 66.7% and 50% of placebo and lidocaine groups, respectively; Both groups showed improvement in subjective self-assessment, with no difference between them |
Depping (2021) [3] | 2021 | Germany | RCT | 89 | RDs | HEIQ, GADS, SSQ, SF-12, IPQ, PHQ-9 | Self-help bood & telephone couselling | The intervention group showed significantly higher rates of acceptance of the disease compared to the CAU group; Coping strategies, social support, and mental quality of life, were significantly higher in the intervention group compared to the control group |
Dittrich (2019) [27] | 2019 | Germany | RCT | 38 | DMD | Kiddo-KINDL | Treatment | Cox regression adjusted for LV-FS after run-in showed a non-significant benefit for medication over placebo; No significant difference between tretments was observed for quality of life; One DMD patient experienced reversible deterioration of walking abilities during the run-in period |
Lortholary (2017) [34] | 2017 | Multiple | RCT | 129 | SM | HADS/HAMD, FIS | Treatment | Masitinib associated with a cumulative response of 18.7% in the primary endpoint compared with 7.4% for placebo; Frequent severe adverse events (> 4% difference from placebo) included diarrhoea, rash, and asthenia |
Lukina (2019) [45] | 2019 | USA, Europe | Post-hoc analyses from phase 2 trial | 19 | GD1 | DS3, SF-36, FSS | Treatment | Mean lumbar spine T-score increased, moving from osteopenic to the normal range; Mean QoL scores improved and moved into ranges seen in healthy adults |
Griese (2022) [26] | 2022 | Germany | RCT | 35 | chILD | chILD-QoL,6-MWT | Treatment | No significant difference in the primary endpoint or secondary endpoints between placebo and HCQ groups; HCQ was well tolerated, with no significnt difference in adverse evets between placebo and HCQ groups |
Thompson (2022) [33] | 2022 | Canada | RCT | 13 | HHT | ESS | Treatment | No significant difference in change in weekly epistaxis duration or frequency between treatment and placebo; Ferritin levels not significantly different between treatment and placebo; No significant difference in RBC transfusions between treatment periods |
Karaa (2023) [30] | 2023 | Multiple | RCT | 218 | PMM | 6MWT, PMMSA, TFS, Neuro-QoL | Treatment | Primary endpoints not met: Difference in least squares mean (SE) from baseline to week 24; Elamipretide treatment well-tolerated, with most adverse events mild to moderate in severity |
Karaa (2020) [31] | 2020 | USA | RCT | 30 | PMM | PMMSA, Neuro-QoL, 6MWT | Treatment | Elamipretide-treated participants walked 398.3Â m on 6MWT compared to 378.5Â m in placebo group; PMMSA and Total Fatigue During Activities scores showed less fatigue and muscle complaints with elamipretide; Neuro-QoL Fatigue Short Form and Patient Global Assessment also showed reductions in symptoms; No significant change in Physician Global Assessment, Triple Timed Up and Go test, or wrist/hip accelerometry |
Mulas (2023) [46] | 2023 | Italy | Cross-sectional study | 43 | Thalassemia | PedsQL | HSCT | Transfused patients showed a significant reduction in HRQoL compared to transplanted patients in PedsQL domains; HSCT was significantly associated with higher total child PedsQL score and higher total parent PedsQL score; A significant positive correlation between the children and parents reported scores across all PedsQL domains |
Schramm (2022) [32] | 2022 | Germany | RCT | 61 | PBC | PBC-40, VAS | Treatment | By Day 28, tropifexor caused 26–72% reduction in GGT from baseline; Day 28 QoL scores comparable between placebo and tropifexor groups |
Zhang (2023) [49]Â | 2022 | China | Cross-sectional study | 56 | IIMs | MMT8, HAQ, SF-36 | Rehabilitation | Both groups showed improved MMT8, FI-2, HAQ, and SF-36 scores after 12Â weeks of physical therapy |
Tutus (2024) [4] | 2024 | Germany | RCT | 74 | RDs | GAD-7, FoP-Q-SF, PHQ-9, ULQIE, CHIP-D | Physical therapy | Significant improvements in the WEP-CARE group for anxiety, fear of disease progression, depression and coping; The benfits regarding anxiety, fear of disease progression, and coping were sustained at the 6-month follow-up; No significant group difference was found for quality of life; High levels of satisfaction were reported by both participating parents and therapists in the WEP-CARE programme |
Shaikh (2014) [47] | 2014 | USA | Prospective study | 4 | AAD | BFM, TWSTRS, SF-36 | Deep brain stimulation (DBS) | GPi DBS improved BFM scores by 87.63 ± 11.46%; Improvement in the total severity scale of TWSTRS was 71.5 ± 12.7%; Quality of life showed remarkable improvement |
Yushan (2022) [48] | 2022 | China | Retrospective observational study | 84 | Wrist TB | VAS, EQ-5D-5L | Surgical intervention | Significant improvements were noted at follow-up; QuickDASH and PRWHE scores decreased, indicating improved function; Enhanced health-related quality of life; All patients reported a good recovery of wrist function at the last follow-up |
Wang (2022) [29] | 2022 | Multiple | RCT | 94 | AHP | SF-12, VAS, EQ-5D | Treatment | Givosiran reduced the number and severity of attacks, days with worst pain scores above baseline, and opioid use |
Khan (2024) [36] | 2024 | USA, Canada | RCT | 22 | HPT | HypoPT-SD, EQ-5D-5L, VAS, PGI-S | Treatment | Mean 24-h urine calcium excretion decreased from baseline to EOT; Supplemental doses of calcium and active vitamin D were significantly reduced from baseline; Bone turnover markers increased 2–fivefold from baseline, indicating a positive impact on bone health; HRQoL and disease-related symptoms improved numerically, with reduced healthcare resource utilisation; 40.9% of patients reported treatment-related adverse events, with no reported deaths |