Data from: Discovery of metabolic biomarkers for Duchenne Muscular Dystrophy within a natural history study

Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable
discovery of valuable molecular markers for disease progression and
treatment response. Serum samples from 51 DMD patients from a natural
history study and 22 age-matched healthy volunteers were profiled using
liquid chromatography coupled to mass spectrometry (LC-MS) for discovery
of novel circulating serum metabolites associated with DMD. Fourteen
metabolites were found significantly altered (1% false discovery rate) in
their levels between DMD patients and healthy controls while adjusting for
age and study site and allowing for an interaction between disease status
and age. Increased metabolites included arginine, creatine and unknown
compounds at m/z of 357 and 312 while decreased metabolites included
creatinine, androgen derivatives and other unknown yet to be identified
compounds. Furthermore, the creatine to creatinine ratio is significantly
associated with disease progression in DMD patients. This ratio sharply
increased with age in DMD patients while it decreased with age in healthy
controls. Overall, this study yielded promising metabolic signatures that
could prove useful to monitor DMD disease progression and response to
therapies in the future.