OBJECTIVES: Real-world and health economic evidence (RW/HE) is becoming increasingly important to clinical decision-making in many major therapeutic areas. The proportion of RW/HE publications in clinical journals has increased over the past 10-15 years in major therapeutic areas, though little is known about the proportion in rare diseases like lysosomal storage disorders (LSDs). This study quantifies the RW/HE publications in clinical journals over ten years (2007–2017) in selected LSDs.

METHODS: Five clinical journals were selected based on impact factor and clinical focus on LSDs. A literature search was performed using EMBASE to identify published original research articles about selected LSDs with approved specific treatment (Fabry disease, Gaucher disease, Pompe disease, Mucopolysaccharidosis type I). Each article was screened for inclusion, and then coded as RW/HE publication (as defined by ISPOR) or clinical publication. Descriptive statistics and chi-square tests were used to compare changes over 2007–2017.

RESULTS: Among included journals, the proportion of RW/HE publications was high compared with other therapeutic areas and increased over time. Overall, the proportion of RW/HE publications increased from 46.2% in 2007 to 58.7% in 2012 and 75.8% in 2017 (p=0.039). Similar patterns were observed across included LSDs. The strongest increases over time were observed in Fabry disease (46.7% in 2007 vs 87.5% in 2017) and Gaucher disease (50.0% in 2007 vs 87.5% in 2017). The majority of RW/HE publications were observational studies (71%) followed by registry studies (13%).

CONCLUSIONS: Included clinical journals published a high proportion of RW/HE publications among all articles on included LSDs, which continued to increase over time, confirming RW/HE publication trends observed in other major therapeutic areas. These results could suggest an increasing interest in publication of RW/HE evidence; for health-care decision-making purposes, and to overcome inherent challenges in rare disease studies including the paucity of randomised, placebo-controlled clinical trials, small patient populations, and disease heterogeneity.