Towards personalised treatments for rare childhood diseases affecting cellular energy

Luis Carlos López

Universidad de Granada, Spain

Some rare genetic disorders prevent the body from producing enough of a natural substance required for cellular energy. These conditions can damage organs with high energy demands, including the brain and the kidneys, causing severe neurological, renal and developmental problems from infancy. But existing treatments offer only limited benefits. This project will develop an innovative, personalised treatment approach that restores the metabolic processes in infants and young children affected by these disorders.

Experts in rare metabolic diseases, paediatric research and translational medicine will combine laboratory studies, disease models and clinical information to understand how patients respond to treatment and why responses differ. Then, they will determine the most appropriate dose and treatment schedule, particularly in babies and young children, and develop monitoring tools to identify which patients are most likely to benefit and whether treatment is working.

By generating evidence for future clinical trials, the project would help advance towards a more precise treatment that improves survival, health and quality of life in children affected by these devastating disorders.

• Felix Distelmaier, Heinrich-Heine-Universität Düsseldorf, Germany

• Oscar Yanes, Consorcio Centro de Investigación Biomédica en Red, Spain

• Asociación de enfermos de patologías mitocondriales, Spain

Modulation of ENDOgenous METabolism to Treat Rare Neurometabolic Disorders

€999,695.00