OBJECTIVES : PD is a rare, progressive neuromuscular disease caused by deficiency of lysosomal enzyme acid alpha-glucosidase. PD is now considered to be a continuous spectrum of phenotypes. The severe classic infantile onset form (IOPD) is rapidly progressing: symptoms appear before 12 months characterized by significant and progressive cardiac hypertrophy with death by 24 months, if untreated. A slower, less severe progressive phenotype is often termed late onset (LOPD). Current standard of care is biweekly intravenous enzyme replacement therapy (ERT) with alglucosidase alfa.

The present study was undertaken to better understand the landscape and evidence gaps relating to HRQoL (including utilities) and HCRU associated with the treatment of PD.

METHODS : Targeted literature reviews following defined search protocols retrieved interventional and non-interventional studies on PD published in English from the year 2000 onwards. 9 databases and 4 technology assessment/regulatory agency websites were searched in June/July 2020. One reviewer selected records with a second reviewer checking a 25% sample, and one extracted data.

RESULTS : Searches identified 2505 unique records; 15 studies (in 15 documents) met the inclusion criteria and reported HRQoL data (n=14; utilities and SF-36) and/or HCRU data (n=6). Utility data were not well reported. For SF-36, the best evidence came from a single trial that reported no differences between ERT and placebo for the physical component scores. For HCRU data, the economic costs of ERT varied across the studies, and the impact of indirect costs were reported in only one study. Data on other healthcare and non-healthcare costs were reported in a small number of studies.

CONCLUSIONS : The impact of PD on patient utility has not been robustly established, highlighting a knowledge gap that merits further research. HCRU for management of PD depends on several key factors including form of disease, country-specific cost of ERT, and indirect costs.