Positive results were announced today by Anavex Life Sciences, which is based in New York, for its Phase 3 clinical trial of Anavex 2-73. Participants in the trial were female adult Rett syndrome patients, as the disorder occurs mostly in females.
About Rett Syndrome
The disease is categorized as a neurological and developmental genetic disorder. It occurs in about one in ten thousand female births and is somewhat rarer in boys.
Infants with the disorder appear to grow normally but eventually stop developing and may even lose some skills as they grow older. Symptoms are severe inability to eat, walk, and speak. Breathing is also affected. One of the most common symptoms is continuous, repetitive hand motion.
No drugs have yet been FDA approved for Rett syndrome.
The Cause
Rett syndrome results from an abnormality (mutation) in the MECP2 gene. It binds on the X chromosome. Nine hundred mutations are associated with the MECP2 gene, primarily in eight specific areas.
The stage of the disease is determined by the affected mutation’s type, location, and strength. People with Rett syndrome may survive into their mid-years or beyond.
About the Study
Anavex 2-73 triggered the sigma 1 receptor that is believed to maintain a stable internal environment (homeostasis). The change restores balance in neural cells and enhances the brain’s ability to reorganize itself (neuroplasticity).
The primary endpoint (outcome) measure is drug exposure-dependent response to the Rett Syndrome Behaviour Questionnaire (RSBQ).
RSBQ is a checklist of Rett syndrome’s emotional and behavioral features. The questionnaire was created to test the behavioral characteristics of girls who have Rett syndrome versus girls with severe to profound mental retardation (SMR).
Anavex 2-73 (blarcamesione) is an oral liquid drug taken daily. The study indicates it is well tolerated and showed improvement in seventy-two percent of patients when compared to thirty-eight percent in the placebo cohort.
Looking Forward
Anavex officials plan to meet with members of the US FDA based on positive results from its Phase 2 and Phase 3 clinical trials. Anavex 2-73 has been granted Rare Pediatric Disease, Orphan Drug, and Fast Track designations by the FDA.
