Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases

作者：Johnston Bradley C^*; Miller Patricia A; Agarwal Arnav; Mulla Sohail; Khokhar Rabia; De Oliveira Kyle; Hitchcock Christine L; Sadeghirad Behnam; Mohiuddin Mukarram; Sekercioglu Nigar; Seweryn Michal; Koperny Magdalena; Bala Malgorzata M; Adams Webber Thomasin; Granados Alicia; Hamed Alaa; Crawford Mark W; van der Ploeg Ans T; Guyatt Gordon H

来源：Journal of Clinical Epidemiology, 2016, 79: 10-21.

DOI：10.1016/j.jclinepi.2016.06.010

• Responsiveness
• Patient-reported outcomes
• Minimal important difference
• Rare disease
• Lysosomal storage disease

Objectives: To explore the responsiveness of patient-reported outcomes (PROs) in interventional studies involving patients with rare lysosomal storage diseases (LSDs).
Study Design and Setting: We searched eight databases for experimental and nonexperimental studies. Pairs of trained reviewers independently screened articles and subsequently extracted data from the eligible studies. Among studies with 10 or more patients using a valid PRO, we assessed the responsiveness of PROs based on a reanalysis of the data using minimal important difference estimates. Our analyses focused on statistically significant within-group differences in PROs for observational studies or the statistically significant between-group differences in PRO scores for controlled studies.
Results: Of 2,679 unique records, 62 interventional studies addressing patients with Fabry (55%), Gaucher (19%), Pompe (16%), and mucopolysaccharidoses (11%) proved eligible. The most frequently used PROs were the Short-Form-36 (25 studies), Brief Pain Inventory (20 studies), EuroQoL-5D (9 studies), and the Fatigue Severity Scale (6 studies). Observational studies suggest that PROs sometimes detect significant within-group changes when present. Randomized trials raise questions regarding the responsiveness of PROs to small differences between groups.
Conclusions: Most studies have relied on generic PROs to evaluate quality of life and symptoms in patients with rare LSDs. PROs appear more responsive in observational studies than randomized trials.

• 出版日期2016-11