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 Research News

Results of the Novartis AFQ056 trial
in adults with Fragile X Syndrome

Dr Andrew Stanfield, Chief UK Investigator for Novartis Pharmaceuticals AFQ056 Clinical Trials, and Clinical Senior Research Fellow and Honorary Consultant in Psychiatry, University of Edinburgh, Royal Edinburgh Hospital.

November 2013 - Results of the Trial

The results from the Phase IIb trial of AFQ056 in adults with Fragile X Syndrome were released to researchers and participants in the study in November. This study was a four month trial which was looking to find out if AFQ056 was better than placebo for helping difficult behaviours in Fragile X Syndrome. 

Disappointingly the main finding of the study was a negative one – AFQ056 was no more effective than placebo in helping people with Fragile X Syndrome. I know this will be disappointing news, not only for those people in the study, but also for others waiting to see what the results were going to be.

Although the drug did not work for adults, it is still possible that it may be helpful if people start taking it at younger ages - the brain is more flexible in younger people and may respond more easily to medications aimed at influencing its development. We should know if this is the case when the results of the trial of AFQ056 in adolescents (aged 12-17 years old) are available. These are expected in 2014. 

The other purpose of the Phase IIb study was to look at whether AFQ056 was a safe medicine. No particular safety concerns were found in the study. The most common side effects were dizziness and difficulty getting to sleep which both occurred in about 1 in 5 people on the highest dose of the drug. 

The Future for AFQ056

Once the results of the adolescent study are available, Novartis will make a decision about whether or not to continue investigating AFQ056. 

There are some people who were in the Phase IIb trial who have since gone on to the longer term continuation study, where everyone gets the active medicine (i.e. there is no placebo). This continuation study will carry on for now so that if people want to they can keep taking the medicine (they can of course also leave the trial if they want to). It is likely that the continuation study will keep going until the results of the adolescent trial are available. At that point we expect a decision will be made about whether or not any of the trials will continue. 

In the past Novartis have talked about doing a study in 5-11 year old children. At the moment we do not know whether this will still go ahead. 

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. Although the results of the current trial are disappointing, the work towards finding medicines that help people with fragile X will continue.

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

 

Results of the Novartis AFQ056 trial
in adults with Fragile X Syndrome

Dr Andrew Stanfield, Chief UK Investigator for Novartis Pharmaceuticals AFQ056 Clinical Trials, and Clinical Senior Research Fellow and Honorary Consultant in Psychiatry, University of Edinburgh, Royal Edinburgh Hospital.

November 2013 - Results of the Trial

The results from the Phase IIb trial of AFQ056 in adults with Fragile X Syndrome were released to researchers and participants in the study in November. This study was a four month trial which was looking to find out if AFQ056 was better than placebo for helping difficult behaviours in Fragile X Syndrome. 

Disappointingly the main finding of the study was a negative one – AFQ056 was no more effective than placebo in helping people with Fragile X Syndrome. I know this will be disappointing news, not only for those people in the study, but also for others waiting to see what the results were going to be.

Although the drug did not work for adults, it is still possible that it may be helpful if people start taking it at younger ages - the brain is more flexible in younger people and may respond more easily to medications aimed at influencing its development. We should know if this is the case when the results of the trial of AFQ056 in adolescents (aged 12-17 years old) are available. These are expected in 2014. 

The other purpose of the Phase IIb study was to look at whether AFQ056 was a safe medicine. No particular safety concerns were found in the study. The most common side effects were dizziness and difficulty getting to sleep which both occurred in about 1 in 5 people on the highest dose of the drug. 

The Future for AFQ056

Once the results of the adolescent study are available, Novartis will make a decision about whether or not to continue investigating AFQ056. 

There are some people who were in the Phase IIb trial who have since gone on to the longer term continuation study, where everyone gets the active medicine (i.e. there is no placebo). This continuation study will carry on for now so that if people want to they can keep taking the medicine (they can of course also leave the trial if they want to). It is likely that the continuation study will keep going until the results of the adolescent trial are available. At that point we expect a decision will be made about whether or not any of the trials will continue. 

In the past Novartis have talked about doing a study in 5-11 year old children. At the moment we do not know whether this will still go ahead. 

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. Although the results of the current trial are disappointing, the work towards finding medicines that help people with fragile X will continue.

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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