DMD Guidance Could Benefit From Update, Experts Say

Updates and more input are needed on clinical practice guidelines (CPGs) for the treatment and management of Duchenne muscular dystrophy (DMD), as well as for incorporating a more reliable method in their development, concludes new research published in Frontiers in Neurology.

Doctors planning DMD treatment

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With their review of MEDLINE, the Turning Research Into Practice database, Google Scholar, and organization guidelines, the investigators were aiming to consolidate DMD guidelines published within the previous 5 years to better summarize their reliability. Their document search encompassed each database’s inception through February 2022, and to be included, the CPGs had to be based on systematic review evidence, focus on the diagnosis/management of DMD, and be published no more than 7 years ago. The 4 CPGs included in their final analysis were published or updated between 2014 and 2022 and were from England’s National Institute for Health and Care Excellence (NICE; 2016), the US’ American Academy of Neurology (2016), Colombia’s Institute of Health Technology Evaluation of the Colombian Ministry of Health (2015), and Australia’s Australian National Health & Medical Research Council (2020).

“For a rare disease such as DMD, the development of CPGs involves multiple obstacles, and due to the importance of high-quality CPGs for [rare diseases], it is necessary to evaluate them critically,” the review’s investigators wrote. “Our objective was to identify CPGs for the diagnosis and management of DMD through an evaluation of methodology formulation and a comparison of clinical recommendations for a better application in clinical practice.”

Overall, the guidelines focused on diagnosis, treatment, and rehabilitation of DMD and contributions from nursing and other professional areas.

All the guidelines had a target population of patients with DMD, but the NICE guidance from England was the only one to also include caretakers. The only guidance developed with patient participation was from Colombia, but all featured multidisciplinary teams of medical geneticists, neurologists, neuropediatricians, patient advocates, genetic counselors, geneticists, pediatricians, cardiologists, rehabilitators, endocrinologists, and clinical psychologists in various combinations.

The investigators used all domains included in the Appraisal of Guidelines Research and Evaluation II (AGREE-II) to evaluate the quality of the guidelines in their analysis, with higher scores indicating higher guideline quality. Colombia’s CPG had the highest overall quality and assessment score, at a mean 97.9% (range, 95.8%-100%), followed by 76.6% (range, 51.4%-90.2%) for the US, 66% (range, 44%-87.5%) for Australia, and 54.8% (range, 37.5%-75%) for England. For their analysis, the study authors designated 80% or better as indicating good quality.

For diagnosis, the Colombian guideline had the widest scope, the authors indicated, while just 3 of the 4 (Colombia, England, the US) included recommendations for pharmacological treatment. The guidance from Australia was the only CPG to include input on treatment strategies from nursing and other allied health professionals (dietitians, occupational therapists, physiotherapists, social workers, and speech pathologists), both groups of which underscored that contributions from multidisciplinary teams are integral to optimize treatment for patients with DMD.

Limitations on these findings include that the 4 CPGs in the authors’ investigation were only published in English or Spanish and all came from high-income countries, with implications for excluding care guidelines that focus on patients with DMD adversely affected by health care disparities and lack of access to medication and diagnosis.

Their concluding recommendation was to update existing guidelines and implement a reliable method for their development.

References

Malaga M, Rodriguez-Calienes A, Chavez-Ecos FA, et al. Clinical practice guidelines for the diagnosis and management of Duchenne muscular dystrophy: a scoping review. Front Neurol. 2024:14:1260610. doi:10.3389/fneur.2023.1260610