Systematic Literature Reviews to Identify Clinical and Economic Outcomes in Adults With Pompe Disease

OBJECTIVES: Pompe disease (PD) is a rare, progressive neuromuscular disease caused by deficiency of acid alpha-glucosidase. The current standard of care for PD is enzyme replacement therapy (ERT). In light of the recent National Institute for Health and Care Excellence approval of avalglucosidase alfa and draft positive guidance of cipaglucosidase alfa with miglustat, this study, comprised of two de novo systematic literature reviews (SLRs), aimed to identify published evidence on the clinical efficacy and safety of ERTs (‘clinical SLR’), and economic studies (‘economic SLR’), in adults with PD, from a global perspective.

METHODS: Both SLRs were conducted following current best practices and methodological principles of conduct, as recommended by the Cochrane Collaboration and detailed in the University of York’s Centre for Reviews and Dissemination (CRD) guidelines. MEDLINE, Embase, the Cochrane Library (Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials), University of York CRD (Database of Abstracts and Reviews of Effects, NHS Economic Evaluation Database, International Health Technology Assessment Database), conference proceedings and grey literature were searched through to June 2022. Eligible records reported interventional or observational studies of ERTs (clinical SLR), or economic evaluations, health-related quality of life (HRQoL)/utility studies, or cost/healthcare resource use (HCRU) studies (economic SLR), in adults with PD.

RESULTS: Of 2,369 records identified in the clinical SLR, 27 unique studies were included (3 RCTs, 24 interventional non-RCTs/observational studies). Of 1,280 records identified in the economic SLR, 1 economic evaluation, 22 HRQoL/utility studies, and 2 cost/HCRU studies were included.

CONCLUSIONS: These robust SLRs provide a comprehensive overview of the clinical and economic evidence of ERTs in adults with PD. Whilst there is a reasonable volume of evidence on the clinical efficacy and safety of ERTs for, and the HRQoL of, adults with PD, there is a paucity of studies reporting economic evaluations and cost/HCRU data in this population.