The University at Buffalo in collaboration with Tetra Therapeutics took a major step in the discovery of a new drug offering first-class treatment for Fragile X Syndrome – a leading genetic cause of autism.
The drug, BPN14770, was used on adult male patients with Fragile X Syndrome and showed positive results in phase 2 clinical study.
“In addition to being safe and well-tolerated, treatment with BPN14770 led to significant cognitive improvement, specifically in the language domains, and we also saw a clinically meaningful benefit in overall daily functioning”, said Mark Gurney, Ph.D., founder, and CEO of Tetra Therapeutics.
What is Fragile X Syndrome?
A genetic disorder caused by a change in FMR1 gene. Gene FMR1 makes a protein called FMRP, which is required for brain development. In FXS, FMRP failed to make this FMRP protein.
Males with FXS have worst syndrome than females. About 1 in 7,000 males and 1 in 11,000 females have been diagnosed with FXS.
The drug is capable of preventing the activity of phosphodiesterase-4D, an enzyme playing a vital role in learning, memory formation, traumatic brain injury, and neuroinflammation.
The potential of BPN14770 to improve cognitive and memory function can also pave the way to treating Alzheimer’s disease, development disabilities, schizophrenia, and traumatic brain injury.