Recently published research, which shows that a currently available drug may be useful for treating Fragile X Syndrome, is already leading to clinical trials. The drug, Minocycline, is a tetracycline antibiotic which is widely used to treat Lyme disease, acne and skin infections.

Dendritic spines in the brains of those affected with Fragile X do not mature as they should. These spines are situated on the brain’s neurons at points, called synapses, where the neurons communicate with each other.

The research, conducted on mice, showed that high levels of enzymes, called MMP’, (matrix metalloproteinases), prevent dendritic spines from maturing correctly and that Minocycline reduces the amount of MMP’s. This reduction led to improvements in the cognitive functions of the mice and reduced their anxiety; two of the major problem areas in Fragile X.

A FRAXA funded clinical trial, which will test the use of Minocycline in patients with Fragile X, has been approved for commencement in early 2009 and will be carried out in Toronto, Canada. Minocycline is also currently under study in the treatment of rheumatoid arthritis, multiple sclerosis (MS), Parkinson’s disease, and other neurodegenerative conditions.

The research study, which was also funded by FRAXA, was carried out at the University of California, Riverside’s Division of Biomedical Sciences by a team led by Iryna Ethell and Douglas Ethell, Dr. Iryna Ethell has been awarded the FRAXA Breakthrough Award for 2008. Dr. Michael Tranfaglia, FRAXA’s chief scientific officer, said that ‘This group has done something unique and incredibly valuable ….This is easily the most important scientific breakthrough in the Fragile X field in many years.” The team are going to continue their research into reducing MMP levels.

FRAXA (The Fragile X Research Foundation) was founded in 1994 by three parents of children with Fragile X, Katie Clapp, her husband, Michael Tranfaglia MD,, and Kathy May. The foundation has raised and funded over $15m of useful research into the causes, treatment and cure of Fragile X. Amazingly it employs only one full time and 3 part time staff members but is helped by the efforts of 100’s of volunteers. You can listen to Katie talking about the birth of the FRAXA foundation on an NPR radio interview.

The study results to be published in Journal of Medical Genetics can also be found on their online site - Minocycline Promotes Dendritic Spine Maturation and Improves Behavioral Performance in the Fragile X Mouse Model - but a fee is charged for reading the full text.

For more information please read:

• FRAXA’s news release, Researchers Propose Minocycline as a Promising Drug for Patients with Fragile X
• CR Researchers Propose Minocycline as a Promising Drug for Patients with Fragile X Syndrome on the UC Riverside website