Potential Drugs

There are a  a number of different areas of research into potential drug therapies which seem particularly interesting.


Small scale studies have been conducted on two separate drugs, Bethamethasone and Dexamethasone. All of these have been carried out in Italy.

A study of Betamethasone, led by the team of Professor Claudio Pignata, involved only 6 patients taking low doses of betamethasone orally. The results were published in the European Journal of Neurology (please note that the article itself is not available free of charge). The results of this trial suggest that the drug may deliver a temporary improvement in the the neurological symptoms of Ataxia Telangiectasia. However the number of patients involved is tiny.

The Dexamethasone study, led by Professor Luciana Chessa, concluded towards the end of 2011 and data is to be published later in 2012. In this case the drug was delivered by an innovative method which involves taking a sample of the patients' blood, loading the drug into the patients' own red blood-cells and returning it into the body. Preliminary results suggest, as in the case of the  Betamethasone study above, that Dexamethasone may deliver a temporary improvement in the the neurological symptoms of A-T, although in this case there was considerable variation in response between patients. However significantly, there was no indication of the side-effects normally associated with steroid use.

Further data is required to ascertain both the efficacy of both these drugs and their side effects.  The A-T Society is currently actively involved in discussions regarding the establishment of a 3-centre trial to establish the efficacy or otherwise of Betamethasone. We are also in preliminary discussions about the possibility of a larger scale trial of Dexamethasone.

Mutation-targeted drugs

Much research into treatments for genetic conditions is focusing on the potential to correct 'nonsense mutations'.  This kind of mutation acts like a 'stop-sign' in the middle of the process used by the cell to produce the ATM protein.  The aim of this research is to identify a compound which will help the protein making mechanism in the cell to 'read across' the blockage and finish producing the ATM protein. This kind of drug is currently being tried for other genetic conditions, such as Cystic Fibrosis or Duchenne's Muscular Dystrophy.

Nonsense mutations only make up about 15% of mutations.  However, each person with A-T has two mutations. This means that in populations with a mixture of mutations (as we have in the UK)  the number of people who may have at least one nonsense mutation, and so potentially benefit from this approach, could reach nearly 30%. 

The main centre of research for this approach is Richard Gatti's laboratory at UCLA. After screening many thousands of drugs, his team are focusing on a small number of promising compounds. They are now hoping to start the next phase of testing which should with luck lead to clinical trials. However, there is still a long, complicated and very expensive road to travel. The A-T Society has supported this work financially and is currently looking at another application for supoprt.


Quite a lot of research has suggested that ATM is involved in the body's response to oxidative stress. As a result, antioxidant capacity is reduced in A-T patients and A-T cells in culture show evidence of increased oxidative stress. Therefore, one approach being investigated is the possibility of treating A-T with antioxidants.