Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

Area of Science:

• Biochemistry
• Genetics
• Rare Diseases

Background:

• Pompe disease (PD) is a rare, progressive, autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency.
• Multisystemic involvement in PD leads to significant morbidity and reduced quality of life.
• Despite available treatments, diagnosis and management of PD remain challenging.

Purpose of the Study:

• To synthesize evidence on screening, diagnostic, and follow-up methods for Pompe disease.
• To identify prevalent techniques and highlight areas needing standardization.

Main Methods:

• Scoping review of 2,139 articles published from 2017 to February 2022 in English and Spanish.
• Included primary studies, reviews, and guidelines on PD assessment methods.
• Data synthesis through narrative summaries and descriptive statistics.

Main Results:

• 96 articles were included, focusing on late-onset PD (LOPD) and infantile-onset PD (IOPD).
• Common clinical signs include hypotonia and cardiomyopathy (IOPD), muscle weakness and dyspnea (LOPD).
• Dried blood spots (DBS) are common for GAA deficiency detection, but reporting lacks standardization; next-generation sequencing is the gold standard for genetic identification.

Conclusions:

• Current methods for PD screening, diagnosis, and follow-up are varied.
• Standardization in reporting biochemical assays, genetic testing, and clinical presentations is crucial.
• A critical lack of consensus exists for PD monitoring strategies, impacting research comparability and healthcare quality.