A new study led by researchers from Hospital Sant Joan de Déu (Barcelona) in collaboration with Flomics Biotech was published on October 13th in the Journal of Inherited Metabolic Disease. This study, titled “Exploring a circulating miRNA signature for PMM2-CDG: Initial insights toward diagnosis, stratification, and monitoring,” has identified a distinct circulating microRNA (miRNA) signature associated with PMM2-CDG, the most common congenital disorder of glycosylation. This research represents a significant step forward in the development of non-invasive biomarkers for the diagnosis, stratification, and follow-up of patients with this rare metabolic disease.
Using plasma samples from 28 PMM2-CDG patients and 67 healthy controls, Flomics team applied next-generation sequencing and machine learning models to uncover six miRNAs that were significantly altered in patients. When combined using the XGBoost predictive model, these miRNAs achieved an area under the curve (AUC) of 0.92, demonstrating strong diagnostic potential.
Further functional analysis linked these miRNAs to neurological, endocrine, and immune pathways, consistent with the multisystemic nature of PMM2-CDG. Although further investigation is needed, these findings suggest that circulating miRNAs could serve as minimally invasive biomarkers for this rare disease
Flomics’ contribution to the study reinforces the company’s commitment to advancing RNA-based biomarker discovery and applying its expertise to improve the diagnosis and monitoring of rare diseases.
📖 Reference:
Exploring a circulating miRNA signature for PMM2-CDG: Initial insights toward diagnosis, stratification, and monitoring.
Journal of Inherited Metabolic Disease (2025).
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