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Updated: Nov 29, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
[Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy]
Guenther Bernert1, Andreas Hahn2, Cornelia Köhler3
1Sozialmedizinisches Zentrum Süd, Kaiser-Franz-Josef-Spital mit Gottfried von Preyer'schem Kinderspital, Wien, Österreich.
Insights
Duchenne muscular dystrophy (DMD) treatment guidelines for nonambulatory patients are evolving. Experts recommend continued supportive care and disease-modifying drugs like ataluren for nonsense mutation DMD, with idebenone as a potential option.
Area of Science:
- Neurology
- Genetics
- Pharmacology
Background:
- Duchenne muscular dystrophy (DMD) is the most common childhood genetic neuromuscular disorder.
- Loss of ambulation typically occurs between 9-11 years of age in DMD patients.
Purpose of the Study:
- To develop expert recommendations for treating nonambulatory Duchenne muscular dystrophy patients.
- Focus on drug treatment strategies for adult nonambulatory DMD, based on current guidelines and clinical trials.
Main Methods:
- Recommendations developed by neuropediatric and neurological experts.
- Based on existing clinical trial data and treatment guidelines.
- Advisory board sponsored by PTC Therapeutics, distributors of ataluren.
Main Results:
- Loss of ambulation is defined heterogeneously across clinical trials (e.g., wheelchair use, walking distance).
- Supportive and symptomatic measures are crucial at all disease stages, including post-ambulation loss.
- Disease-modifying drugs, including glucocorticoids, are standard care. Ataluren is approved for nonsense mutation DMD (nmDMD) and shows delayed progression.
- Idebenone is a potential option for nonambulant patients without glucocorticoids or other therapies; combination trials are ongoing.
Conclusions:
- Treatment for nonambulatory DMD involves continued supportive care and disease-modifying therapies.
- Ataluren and idebenone represent key therapeutic advancements for specific patient subgroups.
- Further research is needed for exon-skipping in adult DMD and to confirm efficacy of newer agents.
Background:
Duchenne muscular dystrophy (DMD) is the most frequent genetic neuromuscular disease in childhood with loss of ambulation usually occurring around the age of 9-11 years.
Objective, Material And Methods:
Based on current guidelines and clinical trials, neuropediatric and neurological experts developed recommendations for the treatment of nonambulatory DMD patients focusing on drug treatment of adults. This advisory board was sponsored by PTC Therapeutics, the distributers of the substance ataluren.
Results And Conclusion:
Loss of ambulation is heterogeneously defined across clinical trials. Among others, the need of a wheelchair, ambulation without mobility aids or maximum walking distance can be suitable parameters for assessment. Treatment of DMD patients at any stage of the disease is based on supportive and symptomatic measures, which should be continued after loss of ambulation. In addition, disease-modifying drugs are available for the treatment of DMD and glucocorticoids are the usual standard of care treatment even beyond the loss of ambulation. Ataluren, a potentially dystrophin restorative, disease-modifying treatment, has been approved for patients with DMD due to a nonsense mutation (nmDMD), which applies to approximately 13% of DMD patients and is usually combined with steroids. Clinical data from the STRIDE registry demonstrated a delayed disease progression even after loss of ambulation. Currently, no reliable data are available for exon skipping approaches in adult DMD patients. The antioxidant idebenone could be an option in nonambulant adolescent patients not treated with glucocorticoids and without other therapeutic options. A combination treatment of idebenone and glucocorticoids is currently being investigated in a clinical trial. Add-on treatment with idebenone in addition to ataluren may be considered for nonambulant nmDMD patients. Some of the discussed treatment options are still in clinical trials or there are not enough data for older DMD patients; therefore, these expert recommendations correspond to evidence class IV.
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