Development of care recommendations for Duchenne Muscular Dystrophy using the RAND/UCLA Appropriateness Method

BACKGROUND:

Duchenne muscular dystrophy is a rare (1:3,600-6,000 male births), progressive neurological disease. Optimal management requires a multidisciplinary approach focusing on anticipatory and preventive measures that address the manifestations and complications of the disease. Even though a comprehensive strategy can alter the natural history of the disease and improve function, quality of life, and longevity, advocacy groups report that the delivery of care is highly variable and inconsistent.

METHODS:

Guided by the CDC, 84 practitioners representing 8 specialties applied the RAND/UCLA Appropriateness Method to evaluate interventions and assessments used in DMD management. Available scientific evidence was augmented with expert opinion to develop rating materials, which were used to assess the “appropriateness” and “necessity” of specific assessments and interventions based on 70,302 unique clinical scenarios.

FINDINGS:

Individual expert ratings were analyzed to indicate when specific assessments and interventions are “appropriate”, “inappropriate”, and “necessary” to use based on specific clinical scenarios, and to identify areas of disagreement and uncertainty. Using these data, experts formulated care recommendations, focusing attention on available tools that promote efficient diagnosis and effective management of DMD.

DISCUSSION/CONCLUSION:

The RAM allows for a structured quantitative method to evaluate interventions and assessments when peer-reviewed science is lacking, which is often the case with rare genetic disorders. When utilized effectively, the RAM can be leveraged to address clinical concerns that serve as a foundation to harmonize clinical practices, highlight gaps in current research, and potentially improve patient outcomes.