Fragile X

Most People Who Work with Special-Needs Children Lack Knowledge About Fragile X

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
September 13, 2013
Abstract: 

According to a recent study in the journal Intellectual and Developmental Disabilities, most people who work with special-needs children lack basic knowledge about Fragile X syndrome, even though it is the leading cause of inherited intellectual disability. Most people studied did not know many of the symptoms of the syndrome or how best to support children with Fragile X syndrome.

Genetic Discovery Links Autism and Schizophrenia

Source: 
Nature Neuroscience
Date Published: 
August 4, 2013
Abstract: 

Nelson Freimer and colleagues at UCLA studied a population in an isolated area of Finland where Schizophrenia is more common than in the average Finnish population. In this small group, it was discovered that the presence of a deletion on part of chromosome 22 was much more prevalent than in the rest of the population. This deleted region normally contains an enzyme, TOP3B. This lack of TOP3B is also linked to disruptions that can lead to Fragile X Syndrome, showing there may be a biological link between Fragile X and Schizophrenia.

An article about this study can be found here:
http://www.newscientist.com/article/dn23995-genetic-discovery-links-auti...

Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: a Randomized, Controlled, Phase 2 Trial

Source: 
Sci Transl Med
Date Published: 
September 19, 2012
Year Published: 
2012
Abstract: 

Research on animal models of fragile X syndrome suggests that STX209, a GABA(B) agonist, might improve neuro-behavioral function in affected patients.

Fragile X Mutation May Produce Toxic Protein Clumps That Cause FXTAS

Source: 
Neuron
Date Published: 
May 8, 2013
Abstract: 

University of Michigan study finds that a mild form of the fragile X mutation produces protein clumps that may trigger fragile X-associated tremor/ataxia.

Arboclofen Has Potential to Improve Social Function and Behavior in Patients with Fragile X Syndrome

Source: 
Science Translational Medicine
Date Published: 
September 9, 2012
Abstract: 

Research on animal models suggests that STX209 (arboclofen) might improve neurobehavioral function in patients affected with Fragile X Syndrome.

FMR1 Knockout Mice Observed to have Hyperactive Neural Firing Rates

Source: 
Nature: Neuroscience
Date Published: 
June 2, 2013
Abstract: 

Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.

Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X Mouse

Source: 
Human Molecular Genetics
Date Published: 
February 7, 2013
Abstract: 

This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.

Fragile X Clinical Trials

Jan 1 2013
Jan 1 2014
America/New York
Location: 
Institute for Basic Research/ The Seaver Autism Center

New York Fragile X Clinical Trials Accepting Participants

(The following are four separate trials): 

 

Trials at IBR (Institute for Basic Research) on Staten Island

  • IBR on Staten Island is now screening adolescents as well as adults for a trial of AFQ056 from Novartis.  Males aged 12-45 who have Fragile X may be eligible.  This trial runs for 4 months and offers an extension phase in which participants can take the drug free of charge.
     
  • IBR is also running a trial of arbaclofen from Seaside Therapeutics for boys and girls ages 5-11 who have Fragile X; this trial includes an extension phase as well.  Seaside has completed enrollment for their trials of arbaclofen for ages 12-50.

Contact Information:

Principal Investigator Dr. Angelo Porto at IBR

Angelo.Porto@opwdd.ny.gov or 718-494-8028

 

 

Trials at the Seaver Autism Center at Mt. Sinai Medical Center

  • The Seaver Autism Center at Mt. Sinai Medical Center in Manhattan is offering the arbaclofen trial for ages 5-11 with the extension phase.
  • Mt. Sinai is recruiting men and women ages 16-50 with Fragile X for a large-scale trial Roche's experimental new drug code-named R04917523.  

Contact Information:

Clinical Research Coordinator Lauren Bush

lauren.a.bush@mssm.edu or 212-241-2826

 

 

For more information:

clinicaltrials.gov

http://fraxa.org/joinstudies.aspx

FMRP Targets Distinct mRNA Sequence Elements to Regulate Protein Expression

Source: 
Nature
Date Published: 
December 12, 2012
Abstract: 

Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.