Clinical Report: Impact of Early Eteplirsen Treatment on Cardiac and Motor Progression

Overview

This case report details the effects of early eteplirsen treatment on a 7-year-old boy with Duchenne muscular dystrophy (DMD), highlighting stable cardiac function and gradual motor improvement over five years. The patient, diagnosed with DMD due to a deletion of exons 48–50, began treatment at 24 months of age.

Background

Duchenne muscular dystrophy (DMD) is a severe, X-linked disorder leading to progressive muscle weakness and significant morbidity. Early cardiac involvement is a critical concern, as cardiomyopathy can emerge in young children with DMD. Current treatments aim to slow disease progression and improve patient outcomes.

Data Highlights

No numerical data or trial data presented in the article.

Key Findings

• The patient was diagnosed with DMD at 17 months, confirmed by genetic testing showing a deletion of exons 48–50.
• Initial symptoms included elevated transaminases, significantly increased creatine phosphokinase, and troponin levels.
• At 24 months, the patient began weekly intravenous eteplirsen therapy and enalapril for cardiac symptoms.
• Over five years, the patient exhibited stable cardiac function and gradual motor improvement despite persistent hyperlordosis and waddling gait.
• The 6-minute walk test results remained stable throughout the treatment period.
• This case represents the first documented cardiac outcomes after eteplirsen treatment in a patient as young as 24 months with DMD.

Clinical Implications

The findings suggest that early intervention with eteplirsen may stabilize cardiac function and support motor development in young patients with DMD. Clinicians should consider the potential benefits of initiating treatment at an early age in similar cases.

Conclusion

This case study provides insights into the long-term effects of early eteplirsen treatment on cardiac and motor outcomes in a young patient with DMD.

Related Resources & Content

1. Pediatric Cardiology, Utilization of Cardiac Pharmacotherapy in ACTION for Cardiomyopathy Associated with Duchenne Muscular Dystrophy, 2025
2. Pediatric Cardiology, Uneven Myocardial Involvement as an Early Sign of Cardiac Impairment in Pediatric Dystrophinopathies, 2024
3. Brain, In utero therapy for spinal muscular atrophy: closer to clinical translation, 2025
4. Pediatric Cardiology, Successful Ablation of Multifocal Atrial Flutter in Pediatric Emery-Dreifuss Muscular Dystrophy Patient Using Pulsed Field Ablation, 2026
5. Exon Skipping - an overview, ScienceDirect Topics
6. Overview | DMD Care UK’s guideline on cardiac care of children with dystrophinopathy and females carrying DMD-gene variations: NICE review, 2025
7. Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy, 2025
8. Exon Skipping - an overview | ScienceDirect Topics
9. Overview | DMD Care UK’s guideline on cardiac care of children with dystrophinopathy and females carrying DMD-gene variations: NICE review | Advice | NICE
10. Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy