Newborn screening guides Pompe care
By Agata Buczak
Early findings from newborn‑screened infants presented at WORLDSymposium 2026 (We’re Organizing Research on Lysosomal Diseases) underscore how biomarkers and symptom patterns emerging in the first year of life are guiding treatment decisions in Pompe disease, particularly late‑onset Pompe disease (LOPD). Alongside this, advances in high‑throughput biochemical screening highlight expanding capabilities for newborn detection across lysosomal diseases.
Priya Kishnani (Duke University, Durham, North Carolina, USA) reported newborn‑screening (NBS) data from the US Pompe Registry, evaluating clinical trajectories in infants diagnosed through NBS. Among 113 patients with LOPD, half of untreated individuals remained asymptomatic, while the remainder developed symptoms – most commonly musculoskeletal – at a median age of 7.8 months. Children who ultimately received treatment developed symptoms earlier (median onset, 5.0 months) and began therapy at an average age of 8.8 months.
Kishnani highlighted that baseline biomarker elevations (hexatetrasaccharide [Hex4] and creatine kinase) were higher in infants who later initiated treatment than in those who remained untreated. She noted that biomarker changes may have informed therapy decisions alongside clinical symptoms. Kishnani emphasized the need for structured follow‑up, stating that “this highlights the trifecta effect: early diagnosis, appropriate treatment, and the use of immune tolerance induction, irrespective of cross-reactive immunological material status.”
Complementing the clinical data, a keynote session highlighted advances in NBS technology that may support earlier detection of Pompe disease and other lysosomal disorders (LSDs). Michael H. Gelb (University of Washington, Seattle, USA) outlined a biochemical NBS platform that can detect most treatable LSDs using a single dried‑blood‑spot punch analyzed by LC‑MS/MS. He explained that multiple conditions can be measured from the same sample using consolidated assays, while conditions not captured by enzymatic or biomarker testing can be screened through a proteomic workflow based on trypsin digestion and targeted capture of disease‑specific peptides.
Gelb also discussed the use of computational protein design and machine‑learning–derived peptide binders to support high‑throughput peptide capture, and the study authors note in the abstract that the platform “could be used as a first‑tier newborn screen or as a second‑tier test following whole‑genome‑sequencing‑based screening.”
Together, the findings from WORLDSymposium 2026 reinforce the importance of early detection and biomarker-guided assessment in shaping monitoring and treatment decisions for NBS-identified infants with Pompe disease.
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