Potential Treatment for Rett Syndrome Will Soon be Evaluated by the FDA

According to a story from Rett Syndrome News, the pharmaceutical company Acadia Pharmaceuticals is seeking U.S. Food and Drug Administration (FDA) approval for its investigational therapy trofinetide. It has been developed as a treatment for Rett syndrome for patients age two and older. The agency is currently determining if the company’s new drug application (NDA) can be filed, a process that is expected to take a couple of months.

About Rett Syndrome

Rett syndrome is a brain disorder that becomes evident early in the lives of its female patients. The disease is caused by a genetic mutation that affects the MECP2 gene. This gene is found on the X chromosome. Rett syndrome presents differently in males and females, and the International Rett Syndrome Foundation has helpful information on the subject. It occurs as a spontaneous mutation in the vast majority of cases, and is rarely inherited from parents. Symptoms include sleeping issues, difficulty speaking, poor coordination, scoliosis, seizures, small head size, slow growth, and repetitive movements. There is no cure for Rett syndrome, and management focuses on maintaining function and alleviating symptoms. Life expectancy for patients is around 40 years. Death often occurs spontaneously, and is often linked to brainstem malfunction, gastric perforation, or cardiac arrest. To learn more about Rett syndrome, click here.

About Trofinetide

The FDA may also decide to give the application Priority Review status, reducing the review period to six months from the standard 10 months. Trofinetide has earned Fast Track, Orphan Drug, and Rare Pediatric Disease designations from the FDA as a treatment for Rett syndrome.

The medication has also performed well in trials. In the phase 3 trial, which included 187 girls living with the disease, trofinetide was able to meet both primary and secondary endpoints, displaying remarkable advantages over placebo. Patients treated with it showed improvements in communication, as well as a reduction in fear, body rocking, anxiety, and lack of facial expression. Meanwhile, most common adverse effects were vomiting and diarrhea of mild to moderate severity.

Trofinetide is also being tested in a phase 2/3 clinical trial in 15 patients aged 2 to 5 years, with the trial expected to conclude next year. 

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