Recommendations for Clinical Trial Design in Duchenne Muscular Dystrophy: Emma Ciafaloni, MD

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“As we develop more new treatments for rare diseases, we really need to pay attention that all patients who are good candidates for new treatment have access to this new treatment. We know from various other common diseases that health disparities do exist. We should really keep that on our radar to do the very best that we can for all of our patients with Duchenne or other neuromuscular, rare diseases moving forward.”

Therapeutic strategies currently for patients with Duchenne muscular dystrophy (DMD) to restore dystrophin involve semifunctional, biochemically abnormal types of shorter length dystrophins. These treatment strategies have the goal of optimizing minidystrophins or microdystrophins to be packaged small enough which would allow the protein function to retain. Clinical trials in the future seeking new treatments for DMD are in need to investigate vectors that should be improved, such as lower dosages, greater muscle and cardiac transduction, and less liver toxicity.

Presented at the 2022 American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) annual meeting, September 21-24, in Nashville, Tennessee, Emma Ciafaloni, MD, FAAN, professor of neurology and pediatrics, University of Rochester Medical Center, gave a talk on recommendations for clinical trial design in rare diseases like with DMD. She discussed how the clinical trial design for rare diseases should improve outcome measures along with reducing number of patients needed to reach approval for the therapies and time to do so. In addition, younger patients and older nonambulatory patient populations need more sensitive outcome measures to help with earlier diagnosis. The collaboration between different sponsors and pharma companies can help to share the learning to move the science faster in a safe and effective way as clinicians are moving to treat more muscle-based diseases, she explained.

In a recent conversation with NeurologyLive®, Emma Ciafaloni, MD, discussed the therapeutic strategies that are being developed from research and the improvements that can be made in clinical trials on rare diseases. She also spoke about that for clinical trials, rare disease can be improved with designing them to be more effective and less time consuming for patients. Current data on outcomes on DMD from prospective cohorts is invaluable for use in future studies and new treatments as over the past several years there has been progress made in this field.

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