Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition.
Meet Benjamin!
He enjoys playing with his “best buddies” and playing baseball with them. Go Aggies! He loves swimming, water parks and video games. While he is loud, energetic, he beams with happiness. He meets life with a huge smile and he loves to hug and high five!
Purposeful lead
Purposeful has partnered with FRAXA and FRAXA-DVI and has identified drug repurposing candidates against FXS after successful preclinical validation. The most promising of the candidates, the combination of Ergoloid Mesylates and 5-Hydroxytryptophan is already being studied in a proof of concept clinical trial at the Rush University Medical Center, Chicago Illinois US (NCT05030129). First results are anticipated later this year. For this treatment, the Committee for Orphan Medicinal Products of the European Medicines Agency has expressed a positive opinion for an orphan designation.
The Ergoloid Mesylates mixture works by binding to a series of central nervous system targets such as adrenergic, dopaminergic and serotonergic receptors. It has been suggested that it plays a role in cerebral metabolism and has been found to improve alertness and memory. 5-Hydroxytryptophan is known to increase the production of serotonin, and therefore may have an effect on anxiety, depression, excitability and other symptoms related to Fragile X Syndrome. It is thought that these agents can work complementary to each-other, eliciting a beneficial effect on both behaviour and cognition.