Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel

Christopher F Spurney, Deborah Ascheim, Lawrence Charnas, Linda Cripe, Kan Hor, Nicholas King, Kathi Kinnett, Elizabeth M McNally, John-Michael Sauer, Lee Sweeney, Chet Villa, Larry W Markham, Christopher F Spurney, Deborah Ascheim, Lawrence Charnas, Linda Cripe, Kan Hor, Nicholas King, Kathi Kinnett, Elizabeth M McNally, John-Michael Sauer, Lee Sweeney, Chet Villa, Larry W Markham

Abstract

Cardiac disease is now the leading cause of death in Duchenne muscular dystrophy (DMD). Clinical evaluations over time have demonstrated asymptomatic cardiac troponin elevations and acute elevations are associated with symptoms and cardiac dysfunction in DMD. Clinicians require a better understanding of the relationship of symptoms, troponin levels and progression of cardiac disease in DMD. As clinical trials begin to assess novel cardiac therapeutics in DMD, troponin levels in DMD are important for safety monitoring and outcome measures. The Parent Project Muscular Dystrophy convened an expert panel of cardiologists, scientists, and regulatory and industry specialists on 16 December 2019 in Silver Spring, Maryland and reviewed published and unpublished data from their institutions. The panel recommended retrospective troponin data analyses, prospective longitudinal troponin collection using high-sensitivity cardiac troponin I assays, inclusion of troponin in future clinical trial outcomes and future development of clinical guidelines for monitoring and treating troponin elevations in DMD.

Keywords: biomarkers; cardiomyopathy; dilated; genetic diseases; inborn.

Conflict of interest statement

Competing interests: DA: consultant to PPMD/I-ACT for Children, no relevant conflicts. LC: employee and shareholder of Pfizer, Inc. NK and J-MS: Critical Path Institute is supported by the Food and Drug Administration (FDA) of the US Department of Health and Human Services (HHS) and is 62% funded by FDA/HHS totalling $14 448 917 and 28% funded by non-government source(s) totalling $8 669 646. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by FDA/HHS, or the US Government. EM: consultant to AstraZeneca, Amgen, Avidity, 4D Molecular Therapeutics, Pfizer, Janssen, Cytokinetics, Exonics and Invitae; grant support from NIH and Department of Defense.

© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Figures

Figure 1
Figure 1
Recommendations from the expert panel for the further study of the natural history of cardiac troponin I testing in DMD. ACTION, Advanced Cardiac Therapies Improving Outcomes Network; DMD, Duchenne muscular dystrophy; hs-CTnI, high-sensitivity cardiac troponin I; PPMD, Parent Project Muscular Dystrophy.

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