In an Australian-first clinical trial, a novel full-spectrum cannabinoid drug therapy has shown to have life-changing impacts for children living with Rett syndrome.

The NTIRTT1 study, led by Associate Professor Carolyn Ellaway, Clinical Geneticist at The Children’s Hospital at Westmead, tested the therapy in a cohort of fourteen young girls aged between 5 and 16 with classical Rett syndrome.

Rett syndrome is a rare genetic neurodevelopmental condition caused by variants in the MECP2 gene located on the X chromosome and severely impacts normal body movement like walking and hand use. It also causes speech difficulty and breathing abnormalities.

Nine-year-old Daisy was diagnosed with Rett syndrome when she was two years old, and requires lifelong personal care, assistance and support. For Daisy and her family, these trials offer hope to improve her quality of life.

“There’s no cure for Rett Syndrome so we’re really looking for treatments only at this point,” said Daisy’s mum, Greer.

Within the first 4 weeks of trialling the full-spectrum cannabinoid drug therapy, girls like Daisy showed significant clinical improvements, including increased communication skills, mental alertness, eye contact, sleep quality and reduced anxiety.

Almost all participating families opted to continue with the therapy after the initial 12-week trial period.

“The trial is the first time a full-spectrum cannabinoid drug therapy has demonstrated significant patient improvements in Rett syndrome,” said A/Prof Ellaway.

“The full spectrum seems to have neuro anti-inflammatory properties which is important in Rett Syndrome because there has been some evidence to suggest that neuro-inflammation plays a role.”

Other cannabinoid drug therapies have been trialled to help treat other neurological and neurodevelopmental conditions including epilepsy and autism spectrum disorder.

A/Prof Ellaway leads Australia’s largest dedicated Rett syndrome clinic at The Children’s Hospital at Westmead. The clinic is at the forefront for Rett syndrome clinical research, trialling several therapies to improve the quality of life for those with the incurable condition.