Macquarie University research presented at the Federation of European Neuroscience Societies (FENS) Forum 2024 found that put together, cannabidiol (CBD) and metformin, a common diabetes drug, can help mice models of Fragile X syndrome and Phelan-McDermid syndrome behave better.

Genetic conditions like Fragile X syndrome and Phelan-McDermid syndrome can lead to habits that are similar to autism, such as talking and moving in the same way over and over again.

While Fragile X syndrome is the most common inherited cause of intellectual disability. It affects approximately 1 in 4,000 males and 1 in 6,000 to 8,000 females worldwide, Phelan-McDermid syndrome, also known as 22q13 deletion syndrome, is rarer and is estimated to affect approximately 1 in 8,000 to 1 in 15,000 individuals.

Dr. Ilse Gantois was in charge of research at McGill University. From what she has seen, many of the medicines used to treat sadness, anxiety, epilepsy, and violence in Fragile X have very bad side effects. 

Researchers say that there aren't many treatments for Phelan-McDermid syndrome, and doctors mostly treat seizures and anxiety.

Parents of children with Fragile X, who are determined to enhance their children's quality of life, were the source of inspiration for Dr. Gantois. Aiming to uncover safe therapies for behavioural disorders, she utilises her expertise in behavioural neuroscience.

Dr. Gantois and her team administered metformin to adult Fragile X mice in a previous study. Metformin, a medication commonly prescribed for type 2 diabetes, has shown promising results. A critical metabolic imbalance in the brain of newborn mice with Fragile X was addressed in a recent study by administering metformin.

A recent study found that a new drug helped improve mice's speech and stopped them from doing the same things over and over. The drug was shown to successfully reduce high-pitched squeaking and excessive grooming, which is a good sign for possible future treatments.

A study was done on mice with Phelan-McDermid syndrome to see how Metformin would affect them. The data showed that Metformin helped people learn and remember things better. It also made speech problems and repetitive behaviour less common.

CBD, a non-psychoactive part of cannabis, has also been looked at as a possible medicine. CBD was given to young mice that had Fragile X. By adults, these mice were social and did the same things over and over again. The same things happened in mice with Phelan-McDermid syndrome. At the moment, researchers are looking into how CBD affects the brain to learn more about how it changes behaviour.

Research groups in Canada and the United States are currently conducting human clinical trials to assess the effectiveness of metformin and CBD in treating Fragile X syndrome.

Dr. Gantois believes that Fragile X and Phelan-McDermid syndromes could see a significant improvement in the lives of those affected by these clinical trials. 

Metformin and CBD are both accepted medicines that have a lot of benefits. They also have few side effects and are safe to use for a long time. Early care improves speech, social skills, and the ability to stop doing the same things over and over again.

Professor Richard Roche, who is Chair of the FENS Forum Communication Committee and Deputy Head of the Department of Psychology at Maynooth University, says that more study needs to be done. Even though mouse brains are very different from human brains, he said that they are still very important for understanding these disorders and testing new treatments.

Researchers said that they are looking into what effects these drugs might have on other diseases related to autism.