PARTNERSHIP GRANT

Mitochondrial respiratory chain disorders (MRCD) are a  group of disorders often causing multi-system disease. Diagnosis is often difficult and requires a complex combination of tests, with none of the current biomarkers being specific or sensitive enough for definitive diagnosis. New biomarkers are required to aid diagnosis and monitor disease progression.

Recent studies suggest that serum Fibroblast growth factor 21(FGF21) and Growth differentiation factor 15(GDF15) levels are superior biomarkers of MRCD, however they require more extensive testing across a diverse paediatric MRCD population and in a wider range of disease controls. Prof Christodoulou’s research team at Westmead Children’s Hospital have a cohort of approximately 80 paediatric patients in which they will measure serum FGF21 and GDF15 levels. Samples will be collected at 6 monthly intervals to monitor disease progression and patients will be evaluated using the Newcastle Paediatric Mitochondrial Disease Scale. MRCD patient serum FGF21 and GDF15 levels will be compared to healthy control individuals and non-mitochondrial neuromuscular, renal, cardiac and liver disease controls. The clinical utility of FGF21 and GDF15 will be compared to conventional markers lactate, pyruvate, and creatine kinase.

This study will determine the utility of FGF21 and GDF15 in diagnosis and predictions relating to disease progression in paediatric MRCD, and may form part of an improved diagnostic pipeline which would be less invasive, more rapid and definitive, and offer useful outcome measures in clinical trials.

Help to make this pioneering diagnostic process a reality.