Rett syndrome is a rare and progressive neurodevelopmental disorder caused by mutations to the MECP2 gene. While it affects all ethnic and racial groups, it is found almost exclusively in females. Rett syndrome patients face difficulties breathing, walking, eating, and speaking. They also experience intellectual disabilities and seizures. The syndrome is characterized by distinctive hand movements which occur almost constantly.
Unfortunately, the only current treatments for this condition are symptomatic. These help to improve the patient’s movement, seizures, and breathing.
Thankfully, there is a new Phase 2 clinical trial underway for Rett syndrome, initiated by Anavex Life Sciences. They have just announced that the first patient has been dosed with the investigational therapy.
This Phase is evaluating the safety, efficacy, tolerability, and pharmacokinetics of ANAVEX®2-73 as a treatment for Rett syndrome. ANAVEX®2-73 is an oral liquid which has already been given Orphan Drug Designation for Rett syndrome. ANAVEX®2-73 is also being evaluated by Anavex as a potential treatment for Parkinson’s disease and Alzheimer’s disease. This Rett syndrome study actually includes genomic biomarkers which were identified in a Phase 2a Alzheimer’s disease study already conducted by the company.
This Phase 2 trial for Rett syndrome will include a total of 15 participants. The treatment period will last for 7 weeks, with all patients receiving eligibility to continue treatment under open label extension after the trial is complete.
In mice models, ANAVEX®2-73 was able to increase automatic visual response within Rett syndrome mice after four weeks.
An additional mice model showed that ANAVEX®2-73 was able to produce significant, dose related improvements in muscular coordination, muscular strength, balance, and motor learning.
Based on these preclinical findings, and the ongoing Alzheimer’s disease and Parkinson’s disease studies, researchers are hopeful about the potential of ANAVEX®2-73 to be an effective therapy for Rett syndrome patients.
Stay tuned for updates on this Phase 2 trial! In the meantime, you can read more about the trial and Anavex’s work in Rett syndrome here.