Dr. Javier Szwarcberg, CEO of Spruce Biosciences, is developing drugs for rare diseases with a primary focus on Sanfilippo Syndrome Type B, a devastating genetic neurodegenerative disease affecting children. The source of this condition is a lack of an enzyme, which results in a buildup of a toxic substance in the brain. The company's drug is an enzyme replacement therapy administered directly to the brain to bypass the blood-brain barrier, and clinical trial data is showing a strong effect on the toxic substrate in the brain and a meaningful benefit on cognition.

Javier explains, "It's a devastating, profoundly affecting disease whereby children are typically born normally and born asymptomatic. And over time, they develop an accumulation of a toxic substrate throughout the body, but primarily the brain. And because of that, it eventually results in a fairly young age, usually between two and a half and I would say three and a half, in symptoms starting. That toxic substance builds in throughout the brain and starts affecting initially learning behavior. Sleep patterns are very much affected, whereby children don't sleep at night and sleep during the day, and they're very hyperactive. And sometimes the diagnosis is confused, and there's no clarity as to what is going on with the child, early in the onset of the disease."

"Yes, it's a genetic disease that's inherited. There's a missing enzyme responsible for the metabolism of this toxic substrate, which I talked about, called heparan sulfate. So when heparan sulfate builds up in the brain, it causes inflammation and neurotoxicity, ultimately resulting in neurodegeneration. Think about it as a disease that is very similar to what you end up seeing with Alzheimer's, whereby the toxic substrate in Alzheimer's is between neurons and outside of the actual cell. In this case, in this disease, the toxic substance, which is different than the one that accumulates in Alzheimer's but builds within the neural cells. Yes, so that's very well-known and very well-characterized."

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