Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

Abstract

Background Pompe Disease (PD) is a rare progressive autosomal recessive disorder resulting from deficient acid alpha-glucosidase (GAA) enzyme activity, necessitating timely identification and management. This scoping review aimed to synthesize the evidence regarding assessment methods for screening, diagnosing, and following up PD. Methods and Results We searched citations in English and Spanish published from 2017 until February 8, 2022, across 11 databases. We included primary studies, reviews, and guidelines that described at least one assessment method for patients with confirmed clinical, genetic, or biochemical PD. Screening and data extraction adhered to PRISMA-ScR. Data was summarized narratively and with descriptive statistics. After screening 2,139 citations, 96 met the eligibility criteria. Cross-sectional studies were the most prevalent design (28%), while guidelines were the least frequent (1%). Newborn screening availability varied among countries, despite its potential to improve PD prevalence estimations. Overall, 81 articles assessed clinical manifestations, with 47 focusing on late-onset PD. We identified considerable heterogeneity in reporting PD phenotypes. The use of dried blood spots for GAA enzyme deficiency detection was described in 18 articles, but reporting lacked standardization. Next-generation sequencing emerged as the gold standard for identifying mutated alleles. Monitoring strategies for pediatric and adult PD lacked consensus, and only one article assessed quality of life. Conclusion This scoping review summarized the evidence to comprehensively evaluate PD patients, emphasizing current practices and existing challenges that must be tackled to optimize screening, diagnosis, and follow-up of PD.