An Experimental Treatment for Rett Syndrome Earns Rare Pediatric Disease Designation

According to a story from, the biopharmaceutical company Anavex Life Sciences Corp. has announced that its experimental product candidate ANAVEX2-73 has earned Rare Pediatric Disease designation from the US Food and Drug Administration (FDA). ANAVEX2-73 is in development as a treatment for Rett syndrome, a rare genetic disorder. Anavex is focused on the development of therapies for a variety of neurodegenerative and neurodevelopmental disorders.

About Rett Syndrome

Rett syndrome is a brain disorder that becomes evident early in the lives of its 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 sponatenously, 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 reserved for medications that are intended to treat a disease that primarily affects people aged 18 years or less and is considered rare, which is defined as any disease that affects less than 200,000 people in the US. In addition, the condition must be severely life-limiting or life-threatening. A company whose product earns this designation may qualify for a Priority Review voucher that the company can use on a future application provided that the original drug gains approval from the FDA.

ANAVEX2-73: Potential for Central Nervous System Disorders

There is a serious lack of disease-modifying treatment options for Rett syndrome. Currently, nearly all people affected by it experience severely shortened lifespan and progressive, debilitating symptoms. ANAVEX2-73 is the company’s leading product candidate which has demonstrated capability in the treatment of Alzheimer’s disease in clinical trials and also has the potential to treat other rare disorders like Rett syndrome. 

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