The final results of the randomised controlled trials of AFQ056 for fragile X syndrome have been released and unfortunately they are negative.  As a result Novartis have cancelled the ongoing continuation trials.  More information is below.

Randomised Controlled Trials

Novartis were running two trials to see if their new medicine, AFQ056, was helpful for difficult behaviours in fragile X syndrome; one trial was in adults, the other in adolescents (12 – 17 year olds).  Both lasted for 4 months and the aim was to see if AFQ056 was more helpful than a placebo.  In these studies, some volunteers were given the active medicine, AFQ056, while the rest were given placebo.  During the trial neither the volunteers nor the doctors prescribing the medicine knew whether they were given placebo or AFQ056.

Unfortunately the results from both trials were negative, in other words AFQ056 was no more helpful than placebo.  The researchers found that almost everyone in the studies felt they had benefitted in some way regardless of whether they had been given AFQ056 or placebo.  The conclusions from these trials are that AFQ056 does not work in any useful way for people with fragile X syndrome.

Novartis also wondered whether they simply had not measured the correct behaviours to show an improvement – if you don’t measure the right things then how can you tell if they are better?  So they asked researchers to write a description of how each volunteer improved then looked to see whether certain types of improvements were more common in those on AFQ056 or placebo.  They did not find any difference between the two meaning that the lack of benefit was not just because they did not look in the right place.

Finally, they checked to see whether there was any evidence that AFQ056 worked for younger people in the trials and not for older people.  There was no evidence that this was the case.

Continuation trials

Those people who were in the 4 month trials described above were offered the chance to stay on the medicine; some people have therefore been taking AFQ056 for more than 2 years.  These continuation studies do not have a placebo – i.e. everyone is taking AFQ056.  Almost everyone in these studies reported some improvement; however these improvements were no larger than those seen in people taking placebo in the randomized trials.  The conclusions from these continuation studies is that even if taken for a long time AFQ056 does not lead to more improvements than would be seen with a placebo.

The Future for AFQ056

As a result of these studies, Novartis have discontinued their research into AFQ056 for fragile X syndrome.  The continuation studies are in the process of stopping and the medicine will become unavailable by summer 2014.  The lack of any evidence that younger people did better means that they have decided that they will not run the trial in 5 – 11 year old children that they had previously talked about doing.

The Future for Research into Medical Treatments for Fragile X Syndrome

There are a number of other medicines that are currently being considered as potentially helpful for people with fragile X syndrome.  Some of them affect the brain in a similar way to AFQ056, some of them affect it differently.  At least one of these medicines is being tested in children aged 5 years and over in the USA.  Although the results of the Novartis trials are very disappointing the work towards finding medicines that help people with fragile X will continue.

Future Trials in the UK

At the moment we do not have any other trials running in the UK, but the Patrick Wild Centre hopes to run trials of other medicines in the not too distant future.  Any research that we do relies upon people volunteering to take part so before we start another trial we hope to seek the views of families about whether this sort of research is important to them and if so how we could go about maximising the chance of success.