A case of Duchenne muscular dystrophy who received a short course of exon-skipping therapy 20 years ago has maintained good cardiac function

Background

Duchenne muscular dystrophy (DMD) is a fatal, progressive muscle atrophy and most patients die before the age of 30 from complications of heart failure. We treated a DMD patient (Patient 0) with exon-skipping therapy using antisense oligonucleotides (ASO) for about one year 20 years ago. In this study, Patient 0 was re-evaluated based on hospital medical records using seven DMD patients of the same generation as controls

Case presentation

Patient 0 was one of the youngest of the eight patients in terms of age at loss of ambulation, indicating that his disease progression was rapid prior to the start of the treatment. However, his age at the start of 24-h ventilator use was the second oldest of the eight patients, indicating slow disease progression after the end of the treatment. Patient 0, now 31 years old, had normal level of serum N-terminal pro-B-type natriuretic peptide, a marker of myocardial damage, and no heart failure level of left ventricular ejection fraction in cardiac function. Patient 0 was the only patient of his generation who did not have heart failure.

Discussion/conclusion

These results suggest that short-term ASO treatment may be effective in preserving respiratory and cardiac function. However, these results were obtained in only one case, and need to be reconfirmed by accumulating long-term follow-up cases of ASO-treated patients in the future.