Conducted at Stanford University, the study is seeking to enroll approximately 15 males with fragile X, ages 18 to 30. For more information or to participate, send an email to the research coordinator, Pavithra Mukunda, at [email protected] or call (650) 497-2578.
The overall goal of the study (NCT04314856) is to predict function impairment based on the relationships between brain biology and behavior. The investigators will compare sigma-1 receptor (S1R) density in brain regions known to be involved in cognition and executive functioning — which allows people to plan, organize, and complete tasks — to regions not involved in those tasks.
S1R is widely distributed throughout the brain and is thought to play a critical role in cognition, learning, and memory. It has recently gained interest as a potential new target for neuroprotective therapies.
The study is divided into two primary aims. The first is to determine how reliably an S1R-specific imaging agent, called 18F-FTC-146 and used in positron-emission tomography (PET) scanning, gets absorbed into the brain. This will be tested in five healthy adults to establish a baseline measure of S1R density and to understand how uptake differs by brain region.
The second aim is to characterize S1R density in the brain of young adult males with fragile X, for later comparison to healthy volunteers.
Participants will be screened over the phone to determine their eligibility. Go here for more on inclusion criteria. Those enrolled will then spend two days at Stanford and will have one final follow-up by phone at the study’s end.
During the in-person portion, participants will undergo a cognitive and behavioral evaluation, and undergo a PET/MRI scan. The researchers also will collect saliva and blood samples.
Parents of study participants will be asked to complete an online survey. The study team will arrange for travel and accommodations, and will cover those costs.
Notably, this trial represents the first use of PET to image S1R density in individuals with fragile X and to test whether S1R density differs between their brains and those of healthy controls, according to the scientists.
Should this strategy prove effective, it may constitute a useful new tool for understanding the brain processes associated with cognitive impairment in fragile X, they said.
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