Dr. Gabriel Brooks is Chief Medical Officer at Solid Biosciences, a precision molecular genetic medicines company focused on rare cardiovascular and neuromuscular diseases, including Friedreich's ataxia. Currently, there are very limited treatments for this rare, progressive neurologic disease caused by a genetic deficiency. Solid Biosciences' novel gene therapy uses dual-route administration to deliver directly to the heart and brain and to replace the missing frataxin gene, which is critical for energy production.

Dr. Brooks explains, "Our flagship program is our DMD program, where we have two clinical trials, a first-in-human INSPIRE study, and a double-blind randomized placebo-controlled phase three trial for the SGT-003 DMD medicine. And for Friedreich's ataxia, we have the SGT-212 program, which uses a novel dual route of administration to target not only the cardiomyopathy, but also uses direct injection into the dentate nucleus. We're trying to address the central pathophysiology of the ataxia that patients live with every day."

"So Friedrich's ataxia is a rare and devastating neurologic disease that afflicts around 5,000 patients in the United States and much more actually in Europe. There is a genetic predisposition. And Friedrich's ataxia is really a disease where the patients experience difficulty in moving, what's called ataxia, which you could think of as poor coordination, where when they try to move, their brain is sending a signal to their muscles, let's say to grab that cup of coffee or climb the stairs."

"In fact, there are specific neurologic tests in terms of looking at nerve conduction and other things that can make the formal diagnosis. And certainly, we can get there with genetic testing. And what you're picking up on is absolutely something that's important with rare disease, is that oftentimes there's a lag between when a patient first manifests symptoms and when they ultimately have the diagnosis. In Friedrich's ataxia, like other genetic diseases, it is horrible. And so, for patients who do make the diagnosis of Friedreich's ataxia, there is often what we call cascade screening, where we look for the disease gene in relatives. Oftentimes, it's then that siblings are identified, and eventually they start manifesting the disease as well."

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Novel Precision Gene Therapy for Friedreich's Ataxia with Dr. Gabriel Brooks Solid Biosciences TRANSCRIPT