Home » Rare diseases » New medicine has potential to improve symptoms of fragile X syndrome

Andrew Stanfield

Senior Clinical Research Fellow, Patrick Wild Centre, The University of Edinburgh

A potential new medicine to treat fragile X syndrome, a genetic condition that often leads to behavioural and learning challenges.

Fragile X syndrome is the most common inherited cause of autism and intellectual disability. It is caused when the FMR1 gene stops making a protein important for brain development. This change leads to marked effects on brain function early in life.

Fragile X can be associated with many difficulties, such as problems with learning and information processing, high anxiety, irritability, aggression, sleep problems and seizures.

Managing symptoms

At the moment, the main way of helping people with fragile X is through educational and behavioural interventions, as well as good care and support for the person and their family. Unfortunately, these are not always available and, even when they are, some people still require medicine to help manage their symptoms.

Fragile X syndrome is the most common inherited cause of autism and intellectual disability.

No medicines have been approved to treat fragile X symptoms, although certain medications are sometimes used to try and help the behavioural difficulties. These include selective serotonin reuptake inhibitors, antipsychotics and stimulants. While sometimes helpful, these medicines are not always effective and can have unpleasant side effects.

Clinical trials for new medicine

Over the last few years, the scientific understanding of fragile X has increased considerably, which has led to clinical trials of new medicines. One interesting way forward may be through cannabidiol. This is the focus of a possible new approach using an experimental pharmaceutically produced gel, absorbed through the skin into the bloodstream. Importantly, cannabidiol does not cause the “high” seen with marijuana. The chemical pathways in the brain affected in fragile X can be targeted by cannabidiol, so giving it as a medicine may help to improve some of the behavioural difficulties. This needs to be confirmed by researchers.

Advances in fragile X are moving at a fast pace. It is hoped that these advances will soon be translated into meaningful benefits for people with fragile X and their families.

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