Fragile X Syndrome

Fragile X syndrome is a genetic disorder caused by a single gene mutation in the Fragile X Mental Retardation 1 gene.

The FMR1 gene exists in three different forms: normal, premutation and full mutation.

For those with a full mutation, the results can include a wide range of developmental, physical and behavioural problems and is the most common cause of inherited developmental disability and the most common single-gene cause of autism.

The condition usually comes with a normal life expectancy, but also requires lifelong care and support.

The Azrieli Foundation supports FMR1 research of both premutation and full mutation.

“Metformin is the Aspirin of the 21^st century.”

Dr. Randi Hagerman

Metformin Clinical Trial on Individuals with Fragile X Syndrome

Some of the symptoms are language deficits, behavior problems, obesity and excessive appetite.

Metformin is a Type 2 diabetes medication that, as Dr. Randi Hagerman from the MIND Institute in California explains, is the “Aspirin of the 21^st century”.

The Metformin Clinical Trial is a collaboration between the UC Davis MIND Institute, the University of Alberta Women and Children’s Health Research Institute in Edmonton, and the University of Montreal CHU Sainte-Justine Research Centre.

The network of researchers, along with an infrastructure for collaborative clinical trials, will help the universities jointly conduct this trial of a new and potentially promising targeted treatment.

Metformin clinical trial progress meeting, Banff 2019.

Fragile X Premutation Clinic at Sheba Medical Center

For individuals who have a repeated gene sequence that results in a premutation, the results are less obvious but can be equally devastating.

A carrier of a genetic mutation is a person who inherits an altered form of a gene but may show no effects of that mutation.

However, in Fragile X, this definition does not exactly fit, as carriers of a premutation are at risk to develop Fragile X-associated disorders including Fragile X Tremor Ataxia Syndrome and Fragile X Associated Primary Ovarian Insufficiency.

For women who carry the premutation, their children have up to a 50% chance of carrying the mutation.

Worldwide, approximately 1 in 200 women and 1 in 450 men are carriers of the premutation form of the gene.

Sheba Medical Center is both researching and advancing care of those with the Fragile X premutation.

Prof. Irit Sagi: MMP9 Study

At the Weizmann Institute in Israel, Prof. Irit Sagi is exploring whether there is a connection between the high levels of MMP9 in the brain and the behavioural and cognitive traits of those with Fragile X.