There is no current therapy for Fragile X syndrome, a form of autism caused by a genetic mutation that leads to a range of developmental problems. But that could soon change. Researchers across the country, including one scientist at University of Washington, are launching a clinical trial looking at how a topical CBD gel can reduce the symptoms of this genetic disorder.
Dr. Raphael “Raphe” Bernier, the University of Washington professor leading the Seattle clinical trials, said the trial hopes to specifically reduce the social aspects of the Fragile X syndrome.
“What we’re looking for specifically to address is these social challenges that we see. So we are looking for more social engagement, more interest in peers or interacting with caregivers, and less irritability in those interactions. So social interactions go smoother,” Bernier said.
Bernier said 20 people between the ages of 3 and 18 in the Seattle area will participate in the clinical trial, which is also being run at 19 other clinical sites in the U.S., Australia, and New Zealand. The children will use a clear gel infused with CBD that they put on their skin twice a day for a 14-week trial period. The randomized, double-blind, placebo-controlled study is sponsored by Zynerba Pharmaceuticals, a company based in Pennsylvania.
Bernier said being able to use a topical gel was “critical” to the study because many children who suffer from autism are resistant to taking pills.
Autism is more commonly referred to as Autism Spectrum Disorder by doctors because it is a considerably wide range of different conditions that are grouped together by their symptoms. The conditions on the spectrum share a similar set of symptoms—which can include challenges in communication, social skills, other intellectual disabilities—but the causes of different types of autism can vary widely. Bernier said CBD is particularly promising for Fragile X syndrome because this specific type of autism is caused by changes to a nervous system in our body called the endocannabinoid system.
“There’s actual theory behind it, it’s not like we are trying CBD with all kids with autism, even though there’s a lot of folks that want to do that. And it’s not like we are trying it with a whole bunch of different genetics stories. It’s really Fragile X because we know Fragile X plays a role in how endogenous cannabinoids work,” Bernier said.
The endocannabinoid system is a neurological network that our body uses to regulate a range of functions, including mood, appetite, and memory. The system was discovered in the 1960s when researchers were looking into how pot gets humans stoned. When they figured out how THC, pot’s most famous chemical, gets us high they unintentionally discovered an entire network inside our bodies. While pot compounds like CBD and THC use the receptors in the endocannabinoid system to exact their effects on us, our bodies also produce our own cannabinoids that interact with the system. Fragile X syndrome disrupts how the body’s endocannabinoid system in a way that impacts emotional reactivity and social interactions, according to Bernier. So if CBD can help correct the disruption that Fragile X causes it might be a useful therapy.
“If we can modulate that neurotransmitter system externally by administering CBD from the outside then maybe that’s going to effectively work to modify behavior,” Bernier said. “CBD is essentially going to inhibit the metabolism of these endogenous neurotransmitters, basically it’s going to make sure that they don’t get broken down so they will be more available in the brain.”
Bernier said he estimates that there are nearly 1,000 different genetic disruptions that can cause autism. CBD probably won’t treat many of those, but Bernier said if this trial is effective it could lead to treatments for other conditions on the autism spectrum that are similar to Fragile X.
“It’s targeted and specific to Fragile X, we’re going to start there,” Bernier said. “If this even works, I’m cautiously optimistic that it will… then we can say hey maybe let’s try this with kids with disruptive mutations to genes related to FMR1 or work with the same pathway that also impacts these endocannabinoids. But, again, we want to see how this works.”
Bernier said the Seattle trials are ready to begin as soon as they get final approval from the Drug Enforcement Agency. The CBD being used in this clinical trial was created in a lab, it was not derived from cannabis or hemp, but it still requires significant hurdles for researchers to get approval from the American government to use because CBD is considered a Schedule I substance. Bernier said he is still waiting on final approval from the Drug Enforcement Agency but he said he expects that approval to come within the next few weeks. Bernier said he expects the study will have initial results within a year.