New hope for girls with Rett Syndrome
A drug used to help adult Alzheimer’s patients may offer hope to young girls with Rett syndrome.
In a new clinical trial being led by The Children’s Hospital at Westmead, doctors are testing whether ANAVEX®2-73 can help improve some of the devastating features of Rett syndrome including their ability to communicate and neurological development.
The trial is the first of its kind in Australia and if successful, will be the first time a treatment can be offered to girls with Rett syndrome.
Rett syndrome is a rare, genetic neurodevelopmental disorder caused by mutations in the MECP2 gene, which is located on the X chromosome and almost exclusively affects girls.
The syndrome causes developmental regression with loss of normal movement and hand function, as well as loss of communication abilities and is coupled with features of cerebral palsy, autism, epilepsy and anxiety.
Currently, there is no treatment and no cure.
“Girls with Rett syndrome rely on support for all aspects of daily living and up until now, there has been nothing we could offer them to help treat their condition, it has only ever been symptom management so we are extremely excited about this trial.”
“We hope the trial will show improvements in some of the features of Rett Syndrome, particularly the anxiety levels, communicative abilities, their interactions with others and in a way we are hoping this will improve their neurological outlook,” clinical trial lead and clinical geneticist, Associate Professor Carolyn Ellaway said.
Six-year-old Valentina is the first patient to begin the trial in NSW, after she was diagnosed with Rett Syndrome at just four-years-old.
“Finding out Valentina had Rett syndrome was probably one of the most devastating times of my life, it just has a terrible prognosis," Paige, said.
“Valentina went from being able to say ‘mumma’, ‘dadda’, ‘nanna’, ‘high-five’ to suddenly not talking at all.”
“For me, this trial is something I have been forever hoping for because finally it means there might be a chance that a medication can help improve Valentina’s condition and give her a better quality of life, and even if it doesn’t, it is still a massive step in the right direction.”
The Phase 2 double-blind, randomized, placebo-controlled clinical trial will aim to recruit between 30 – 40 girls across Australia, with NSW being the lead site and having the largest recruitment. Participants will be involved over 12 weeks with a gradual dose increase over that period to test the safety, tolerability and effectiveness of ANAVEX®2-73.
After the completion of the trial, and in consultation with their doctor, participants may then have the option to voluntarily receive the drug for a further 48 weeks, with doctors continuing to track their progress for the study.
“Our hope is that we will see positive outcomes from this clinical trial fairly soon so we will then be in a position to extend this treatment beyond the extension phase of the trial and provide it to all of our patients,” A/Prof Ellaway said.
The Children’s Hospital at Westmead runs a multidisciplinary clinic for Rett syndrome. Established 20 years ago, the clinic provides an all-in-one service for patients so they can see their specialists and allied health professionals during the one appointment. It was the first dedicated Rett syndrome clinic in Australia and at the time, one of very few multidisciplinary Rett clinics around the world.