Titin fragments as biomarkers for DMD

In order to identify a reliable biomarker for Duchenne muscular dystrophy (DMD), researchers associated with the Solid Biosciences laboratory have analysed the biological data of patients who took part in an IGNITE gene therapy trial with a microdystrophin :

  • urine samples were taken at D0, M6 and M12 from participants with DMD in this trial,
  • analysis of these samples on the proteomics platform (SOMAscan) showed that in responders to this therapy, the level of urinary titin decreased over time,
  • this biomarker proved to be more reliable than the CPK level alone.

This work confirms the value of this biomarker, as already demonstrated in mdx mice and GRMD dogs.


N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy. Boehler JF, Brown KJ, Ricotti V, Morris CA.Skelet Muscle. 2024 Janv.