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Final results of the Novartis AFQ056 research programme for adults and adolescents with Fragile X Syndrome

Results of the 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.

Results of the 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 best we could go about doing it. 

Dr Andrew Stanfield

Senior Clinical Research Fellow / Honorary Consultant Psychiatrist

Director of the Patrick Wild Centre

Division of Psychiatry, Royal Edinburgh Hospital.

Research Summaries from the Cerebra Centre for Neurodevelepmental Disorders

at the University of Birmingham

March 2012

To increase the availability of their research to parents, the  Cerebra Centre for Neurodevelopmental Disorders at the School of Psychology, University of Birmingham, are now producing one page, accessible summaries of papers accepted for publication or published in peer reviewed journals.

The attached is an example of such a report about self-injurious behavior  that is relevant to both Down and Fragile X syndromes.  

For more information please call Chris Oliver, Professor of Neurodevelopmental Disorders, on 0121 414 4909 . A permanent link to these summaries will be included here shortly.

Research hub to tackle rare genetic illness

 

November 2010

By Lyndsay Moss
Health Correspondent

"A RESEARCH centre aimed at finding new treatments for a distressing genetic mutation with strong links to autism is to open in Scotland this week following a determined fund-raising campaign....." .the full online article in can be found in the "Scotland on Sunday" paper here.

A video clip of the centre and its staff can be viewed here : "Family donates six-figure sum to learning difficulties research".

A related article "Family donation to genetic research" can also be found on the Selkirk Weekend Advertiser dated Nov 15 2010.

December 2010 - LATEST UPDATEThe date for a meeting for families affected by fragile X at the newly opened Patrick Wild Centre for Research into Fragile X Syndrome (see  press items above) at The University of Edinburgh, has been confirmed to be January 19th 2011. The objective is for the Centre to engage with individuals and thier families affected by fragile X, as they believe that this is key to them being able to be a successful research facility.

The Fragile X Society is linked to this centre and would encourage all those who are able to, to attend this event. The meeting will commence at 2.30pm in Room G.07A of the Informatics Forum, 10 Crichton Street, Edinburgh, EH8 9AB, U.K. Please note that if you wish to participate it is not simply a case of turning up on the day: to attend, you must notify the Centre (not The Fragile X Society) as detailed in this file from the Centre.

***

Brain clue may explain condition's 'hug aviodance'

Febuary 2010 - Widespread news coverage

The above, and many other media articles can be accessed using this link.

The BBC News article can be read here.

The Daily Mail article can be read here.

Today's Bloomberg news: a Eureka moment for Fragile X

 September 18th 2009 - News bulletin from FRAXA :

In 2007, FRAXA medical director Dr. Mike Tranfaglia missed Thanksgiving dinner to present the key advances in Fragile X research to Roche scientists in Basel, Switzerland. It was well worth it, as Bloomberg news reported today: Roche kicked off a Fragile X research program and is poised to begin clinical trials this year.

Mike met with Dr. Luca Santarelli, Roche's head of central nervous system exploratory development, who said, in an interview with Bloomberg reporter, Dermot Doherty, "For a scientist, a Eureka moment is why we live and do this job. You have very few, but that was one of them." Read the Bloomberg article here.

***

Furthermore:

FRAXA's newsletter giving an overview on current trials including minocycline, MGluR etc can be viewed as a pdf file within a new window, at http://www.fraxa.org/pdf/News08v2.pdf

The following articles report on current research studies regarding Fenobam and MGluR:

Research News in the Media

Other news articles related to fragile X can be found in the News Room page.

UK Fragile X Studies

In addition to the above, details of fragile X studies as reported in the Fragile X Society’s Newsletter and Research Supplements and at Family Conferences can be found in the UK Research Reports page.

 

See also

Current UK Fragile X Studies

Society's Research Policy

 

Final results of the Novartis AFQ056 research programme for adults and adolescents with Fragile X Syndrome

Results of the 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.

Results of the 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 best we could go about doing it. 

Dr Andrew Stanfield

Senior Clinical Research Fellow / Honorary Consultant Psychiatrist

Director of the Patrick Wild Centre

Division of Psychiatry, Royal Edinburgh Hospital.

Research Summaries from the Cerebra Centre for Neurodevelepmental Disorders

at the University of Birmingham

March 2012

To increase the availability of their research to parents, the  Cerebra Centre for Neurodevelopmental Disorders at the School of Psychology, University of Birmingham, are now producing one page, accessible summaries of papers accepted for publication or published in peer reviewed journals.

The attached is an example of such a report about self-injurious behavior  that is relevant to both Down and Fragile X syndromes.  

For more information please call Chris Oliver, Professor of Neurodevelopmental Disorders, on 0121 414 4909 . A permanent link to these summaries will be included here shortly.

Research hub to tackle rare genetic illness

 

November 2010

By Lyndsay Moss
Health Correspondent

"A RESEARCH centre aimed at finding new treatments for a distressing genetic mutation with strong links to autism is to open in Scotland this week following a determined fund-raising campaign....." .the full online article in can be found in the "Scotland on Sunday" paper here.

A video clip of the centre and its staff can be viewed here : "Family donates six-figure sum to learning difficulties research".

A related article "Family donation to genetic research" can also be found on the Selkirk Weekend Advertiser dated Nov 15 2010.

December 2010 - LATEST UPDATEThe date for a meeting for families affected by fragile X at the newly opened Patrick Wild Centre for Research into Fragile X Syndrome (see  press items above) at The University of Edinburgh, has been confirmed to be January 19th 2011. The objective is for the Centre to engage with individuals and thier families affected by fragile X, as they believe that this is key to them being able to be a successful research facility.

The Fragile X Society is linked to this centre and would encourage all those who are able to, to attend this event. The meeting will commence at 2.30pm in Room G.07A of the Informatics Forum, 10 Crichton Street, Edinburgh, EH8 9AB, U.K. Please note that if you wish to participate it is not simply a case of turning up on the day: to attend, you must notify the Centre (not The Fragile X Society) as detailed in this file from the Centre.

***

Brain clue may explain condition's 'hug aviodance'

Febuary 2010 - Widespread news coverage

The above, and many other media articles can be accessed using this link.

The BBC News article can be read here.

The Daily Mail article can be read here.

Today's Bloomberg news: a Eureka moment for Fragile X

 September 18th 2009 - News bulletin from FRAXA :

In 2007, FRAXA medical director Dr. Mike Tranfaglia missed Thanksgiving dinner to present the key advances in Fragile X research to Roche scientists in Basel, Switzerland. It was well worth it, as Bloomberg news reported today: Roche kicked off a Fragile X research program and is poised to begin clinical trials this year.

Mike met with Dr. Luca Santarelli, Roche's head of central nervous system exploratory development, who said, in an interview with Bloomberg reporter, Dermot Doherty, "For a scientist, a Eureka moment is why we live and do this job. You have very few, but that was one of them." Read the Bloomberg article here.

***

Furthermore:

FRAXA's newsletter giving an overview on current trials including minocycline, MGluR etc can be viewed as a pdf file within a new window, at http://www.fraxa.org/pdf/News08v2.pdf

The following articles report on current research studies regarding Fenobam and MGluR:

Research News in the Media

Other news articles related to fragile X can be found in the News Room page.

UK Fragile X Studies

In addition to the above, details of fragile X studies as reported in the Fragile X Society’s Newsletter and Research Supplements and at Family Conferences can be found in the UK Research Reports page.

 

See also

Current UK Fragile X Studies

Society's Research Policy

 

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