Co-Founder Kathy May Returns after Two Decades to Write Grants. It’s about discovering new forms of treatments to enhance the mental, emotional and social growth of those affected by fragile X. “And there will be a cure,” she said. “FRAXA is the reason for this hope. I have come full circle to FRAXA and feeling more hopeful than I have in many years.”
According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with fragile X
With a $90,000 grant from FRAXA Research Foundation awarded in 2017, Dr. Clinton Canal targets seratonin receptors. “There are 15 unique serotonin receptors (at least) and many of them impact the function of brain circuits that are impaired in neurodevelopmental and psychiatric disorders,” said Dr. Canal. “Results from this project could guide new drug discovery or drug repurposing for fragile X.”
“We treated mice with metformin and corrected all the core fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.
“The occurrence and development of events by chance in a happy or beneficial way.” That’s how Lynne E. Maquat, PhD, describes the process of how her research extended to fragile X syndrome to better understand it and ultimately find advanced treatments.
Although the clinical trials failed to show efficacy in the patient population and Novartis and Roche discontinued their fragile X development programs, Dr. Senter has worked with Mark Bear, PhD to carefully review parent observations. Those caregiver reports suggested tolerance to mGlu5 antagonists antagonists developed quickly, consistent with some preclinical findings in the mouse model.
Yes, we all know the signs of fragile X anxiety: Ears begin turning red followed by incessant pacing, heavy breathing, stiffening body, flapping, jumping, avoidance or yelling. Sometimes, it’s the more severe screaming, pinching, scratching, biting and general tearing things up or, worse, the nuclear meltdown.
FRAXA awarded $44,000 to Healx in 2017 for drug repurposing to find new treatments for fragile X syndrome. The results of this study include eight top “hits” which show promise for fragile X. FRAXA is further investigating these hits.