Abstract
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.
Keywords
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Article info
Publication history
Published online: July 04, 2016
Accepted:
June 27,
2016
Footnotes
Funding: Sanofi Genzyme funded the study but was not involved in design, data collection, or analysis. A.T.v.d.P. has received grant support from Sanofi Genzyme.
Conflicts of interest: B.C.J., S.M., and G.H.G. are recipients of a research grant from Sanofi Genzyme to conduct this study. P.A.M. and R.K. were paid from the Sanofi Genzyme research grant as project coordinators. A.G. and A.H. (coauthors) are employees of Sanofi Genzyme and as content experts were involved in developing the study question and the interpretation of the results. All remaining authors declare no conflicts of interest.
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