Creatine contributes to the energy supply in the muscles and brain and is provided both by food and by the body's own synthesis. Supplementing with creatine can increase muscle strength and have potentially positive effects on various health conditions. To date, creatine supplementation has been medically indicated for creatine deficiency syndromes caused by loss-of-function mutations in two enzymes (GATM and GAMT) and a creatine transporter (SLC6A8).

Gain-of-function mutations in GATM, on the other hand, can lead to protein aggregates in mitochondria of the proximal tubule, resulting in progressive kidney damage. The expression of GATM is negatively regulated by creatine: If the diet is creatine-rich, expression is suppressed. Supplementation with creatine also suppresses the expression of mutant GATM in animal experiments and could therefore have a positive effect on the course of the disease in affected patients.

This study therefore aims to investigate the influence of creatine supplementation on creatine metabolism, well-being and the progression of kidney disease in patients with aggregate-forming GATM mutations. In addition, the creatine metabolism in healthy individuals and in patients with kidney disease, who may potentially have a relative creatine deficiency as creatine synthesis may be impaired, will be analysed comparatively.

 

Recruitment of study participants will begin in autumn 2025.

 

The study is registered with the "German Register of Clinical Studies": DRKS00035761 (external link, opens in a new window)