Metabolomics-based treatment for chronic diseases: results from a multidisciplinary clinical study

Non-communicable diseases (NCDs), known as chronic diseases, significantly impact patients' quality of life (QoL) and increase medical expenses. The majority of risk factors are modifiable, and metabolomics has been suggested as a promising strategy for their evaluation, though real-world data are scarce. This study evaluated the QoL improvement and cost-effectiveness of a metabolomics-based treatment for NCDs, aiming to restore metabolic dysfunctions and nutritional deficiencies.

We performed a pre-post intervention analysis using clinical, metabolomics, QoL and economic data obtained from the electronic health records of 765 patients visiting a private practice. The intervention consisted of personalised treatment to restore metabolic dysfunctions and nutritional deficiencies identified by metabolomics alongside the standard treatment for their condition. The mean intervention duration was 401 days.

Significant improvement was identified in energy levels, sleep quality, gastrointestinal function and physical activity (p<0.001). 67.9% of participants reported significant improvement in the overall QoL, and the average quality-adjusted life-years (QALYs) increased by 0.064 (95% uncertainty interval 0.050 to 0.078) post-treatment. The incremental cost-effectiveness ratio was estimated at €49.774/QALY (95% CI €40.110 to €61.433). Metabolic profiling demonstrated that 16/35 organic acids and 11/24 total fatty acids were significantly changed post-treatment (p<0.001), participating in key pathways such as energy metabolism, microbiome and neurotransmitter turnover. Vitamin D and 5-methyltetrahydrofolate insufficiency was significantly restored (p=0.036).

This is the first study providing evidence that the integration of metabolomics in clinical practice can have a clinical benefit for patients' QoL and may be a cost-effective method.