The professor of Neurology and Pediatrics at University of Rochester Medical Center discusses the progression of new treatment for Duchenne muscular dystrophy and provides suggestions for moving forward with research in the field. [WATCH TIME: 5 minutes]
WATCH TIME: 5 minutes
“We don't want to sit and relax on the successes; we have to use those successes as a stepping stone to move forward. We can always do better, as long as there is an exchange of lessons learned across scientists and clinicians and the field. I think that the field will definitely move in the best possible direction, I have no doubt we're definitely going forward not backward.”
Patients with Duchenne muscular dystrophy (DMD) have been exposed to current therapeutic strategies to restore dystrophin in patients with involve semifunctional, biochemically abnormal types of dystrophins. The treatment strategy of these therapies is retaining the protein function. In research, there is the need for better outcome end points for the younger and older nonamulatory population in terms of quality of life and also have biological significance. Most of the progress has been made in the ambulatory population has been because that group has been known for being the best chance to demonstrate a drug effect. As progress continues in this field of research, there is the need to really develop better end point for the young and for the older nonambulatory because those patients are going to live much longer.
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, presented a talk on the development of new treatments for DMD. She recommended focusing on the possibility of newborn screening. Newborn screening could be the next milestone in the field, as even with having more effective treatments, there is still a significant delay in diagnosis in DMD. In addition, she mentioned that it is important to avoid health disparities in terms of patients with rare diseases for having them get access to new treatment, and that the field should move forward in making an effort to have the new treatment accessible for them, focusing on the patients who are good candidates.
In a recent conversation with NeurologyLive®, Ciafaloni discussed the current research in the field of DMD and the progression of the therapeutic strategies in development for patients with rare diseases. She also spoke about the development of true novel treatment for patients with rare diseases and the need for an investment from society to make the progress happen and make it work for everyone.