REA-IMD

Boosting Residual Enzymatic Activity as a potential therapeutic strategy for Inherited Metabolic Diseases.

Summary of research

About 1 in every 800 to 2500 newborns is born with an inherited metabolic disease (IMD). These diseases are a major cause of death in children worldwide and are caused by genetic defects in over 1,500 known metabolic enzymes. Unfortunately, despite progress in early screening, biomarker discovery, diagnosis, and treatment, most IMDs (75-80%) are still not treatable. Dietary adjustments are the most common treatment but can be difficult to manage and are not always effective. Other treatments are being explored but are still very limited, often only working for a few specific types of IMDs, and in some cases, the mechanisms of action are not fully understood. Therefore, there is a strong need for new strategies.

REA-IMD aims to develop novel therapeutic approaches using an emerging technology based on antisense oligonucleotides (AONs). These AONs are small molecules that can modify various processes in our cells. For example, IMDs are hereditary and result from DNA defects, leading to the absence of essential proteins or the production of harmful ones. This can cause the accumulation of toxic metabolites or a deficiency of vital ones. Within this project, we aim to use AONs to target genes to restore balance within the metabolic pathways (e.g., reduce toxic metabolites) to develop potential treatments for IMDs.

Awarded grant, amount: Metakids, €319.975,-