Investigational Treatment for Rett Syndrome gets Rare Pediatric Disease Designation

According to a story from Wapakoneta Daily News, the drug companies ACADIA Pharmaceuticals Inc. and Neuren Pharmaceuticals Limited have recently announced that its investigational product candidate trofinetide has earned Rare Pediatric Disease designation from the US Food and Drug Administration (FDA). This designation is for the treatment of a rare genetic disorder called Rett syndrome. The companies are currently enrolling patients for a phase 3 clinical study that will test the effectiveness of the drug in patients living with this disease.

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. Boys who have this mutation typically die soon after being born, so Rett syndrome almost exclusively affects girls. 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 Rare Pediatric Disease Designation

Rare Pediatric Disease designation is a program reserved for therapies that are in development for diseases that are considered rare, which is defined as any disease that affects less than 200,000 people in the US. In addition, the disease must primarily affect people who are aged 18 years or less. If a drug with this designation gains approval, the sponsor company could be able to receive a Priority Review voucher that could be used to speed up the review process on a future product.

Trofinetide has also earned Orphan Drug designation in both the US and EU and Fast Track status from the FDA. It also has the potential to be a useful therapy for another rare disorder called fragile X syndrome (FXS).

 


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