Fighting Fragile X Syndrome

Researchers take a big step in treating a genetic disorder closely linked to autism.

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A leading cause of inherited autism, Fragile X syndrome is a genetic condition that causes behavioral and learning challenges—sometimes severe. Now, a new drug is moving closer to becoming available as a first-in-class treatment.

Discovered through a collaboration between University at Buffalo researchers and biotechnology company Tetra Therapeutics, the drug has been shown to boost cognitive function in patients with the disorder.

Safe and effective

Preclinical investigation of the drug, known as BPN14770, was completed through a collaboration between UB faculty members James M. O’Donnell, professor and dean of the School of Pharmacy and Pharmaceutical Sciences, and Ying Xu, research associate professor, and biotechnology company Tetra Therapeutics.

Recently, the drug achieved positive top-line results in a phase 2 clinical study. In the study, treatment with BPN14770 led to significant cognitive improvement, specifically in the language domains, and a clinically meaningful benefit in overall daily functioning. In addition, the drug was found to be safe and well tolerated.

Moreover, say the researchers, the drug’s potential for improving cognitive function could translate to treatments for other conditions, including Alzheimer’s disease, developmental disabilities, traumatic brain injury and schizophrenia.

Gratifying results

BPN14770 works by inhibiting the activity of an enzyme that plays a key role in cognitive processes such as memory formation and learning. Previous studies found that the drug has the potential to promote the maturation of connections among neurons, which are impaired in people with Fragile X syndrome.

“We are very excited about the results of this study,” says Mark Gurney, founder and chief executive officer of Tetra Therapeutics. “These findings validate our approach to treating this disease through a mechanism that addresses a core deficit in the disorder.”

For O’Donnell, the results are particularly gratifying. “Seeing years of research lead to a successful trial for treatment of this serious genetic disorder is quite rewarding,” he says.