080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

Archive for May, 2010

Essais cliniques pour l’X fragile (bilan) / Fragile X clinical trials (update)

Dr Mike : blog / Videoblog

La découverte d’une interaction protéinaire importante éclaire les recherches sur le retard mental

L’équipe scientifique du docteur Edward Manser de l’Institut de Biologie Médicale de A*Star (IMB)[1] et leurs homologues de Duke NUS Graduated Medical School ont fait une découverte importante sur une interaction protéinaire susceptible de jouer un rôle essentiel dans la formation des synapses du cerveau.

C’est en faisant une étude analogique sur la protéine FXR1, ayant de grandes similitudes avec la protéine FXM1, que le docteur et son équipe sont parvenus à comprendre les mécanismes aboutissant au syndrome du X fragile, menant à une forme d’autisme non héréditaire chez les individus de sexe masculin. Déduisant que l’interaction de la protéine PAK1 sur l’activation de la protéine FMR1 était semblable à celle démontrée avec la protéine FXR1, ils ont donc pu étudier son rôle dans le développement neurologique. La protéine FXR1 et FMR1 étant très similaires, le résultat suggère que l’incapacité dePAK1 à se lier à la protéine FMR1 mutante est un aspect inhérent au syndrome du X fragile.


Treatment update

There is growing excitement in the Fragile X research community and among the families of people that have Fragile X syndrome. The progress that researchers have made over the past few years has allowed us to finally start moving potential treatments out of the lab and into the clinics. The Fragile X Research Foundation of Canada has spearheaded this progress by partnering with Surrey Place Centre to establish the first FX Clinic and initiating the first Canadian clinical trial to test a new treatment for Fragile X.

The FXRFC has also expanded its international collaboration by participating in the Fragile X Clinic and Research Consortium organized by the National Fragile X Foundation in the U.S. It currently consists of 20 clinics in the U.S. and one in Canada. By being part of this consortium, the FX Clinic in Toronto will be able to participate in a number of multicentre clinical drug trials that are in various stages of planning.


Researchers at the UC Davis MIND Institute believe a new treatment could make signs of autism disappear in their patients

Mind Institute /KCRA.com


Antagonizing fragile X

Emory University |

Nearly three decades ago, an Emory-led international team identified fragile X syndrome as the most common inherited cause of intellectual disability.

Emory human genetics chair Stephen Warren and his colleagues discovered the mutated gene on the X chromosome that causes this disorder. The scientists helped develop a screening test for fragile X and have been studying it ever since.

But until now there has been no treatment. That may soon change. Along with four other medical centers, Emory is participating in a phase 2 clinical trial that will test a targeted drug therapy for fragile X syndrome. The randomized, double-blind study has 32 adult participants from 18 to 50 years, who have fragile X syndrome. A second study will continue testing the most effective dose of the drug against a placebo in 28 participants.


UT Southwestern researchers uncover Fragile X syndrome gene’s role in shaping brain

DALLAS ? May 11, 2010 ? Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the “pruning” of nerve connections in the brain. Their findings appear in the April 29 issue of Neuron.


Recent Announcements Suggest Cellceutix Is Well Positioned With Autism Compound; Pfizer and Novartis Announcements Indicate Interest in Autism by Major Companies

BEVERLY, MA–(Marketwire – May 12, 2010) – Cellceutix Corporation (OTCBB: CTIX), a developer of small compounds for the treatment of cancer, autism and inflammatory diseases, believes that recent announcements by major pharmaceutical companies support its strategy of developing a novel compound to treat autism spectrum disorder. The New York Times published an article on April 29th to report the results from a small, overseas study for the treatment of fragile X syndrome by the Switzerland-based pharmaceutical giant Novartis. Fragile X, a genetic disorder characterized by changes in part of the X chromosome, is believed by Novartis to be a key aspect in attacking developmental disorders such as autism and mental retardation. Pfizer has also recently announced an effort to develop treatments for autism spectrum disorder.


Brain changes associated with Fragile X take place before age 2

“Because we know what gene causes Fragile X, the FMR1 gene, and we know where in the brain this gene is expressed, these findings provide important targets for potential early intervention and monitoring of the effects of interventions for the behavioral and cognitive problems in individuals with Fragile X syndrome. There are pharmaceutical compounds currently in clinical trials for treating Fragile X syndrome that are rationally derived, targeted treatments for Fragile X based on our understanding of the neurobiological functioning underlying . Eventually we hope that we will be able to monitor the effects of these interventions on particular parts of the brain identified in this study and draw inferences about which parts of the are the most important targets in Fragile X,” Piven said.


Promise Seen in Drug for Retardation Syndrome

En Une ! ! !

Le syndrome du X fragile fait la Une du New York Times, édition du 30 avril (version papier), 29 avril, version numérique | Fragile X syndrome makes New York Times frontpage ! Fabulous day !

Lien / Link