080210xf's Blog

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

Archive for October, 2010

Province announces autism specialist hiring process has begun

The province recognized Autism Awareness Month today by announcing that the recruitment process has begun for the new special needs family support specialist.

This is a full-time job and the person will support families who have a child with special needs from preschool age to Grade 7.

“This position will help to alleviate a great deal of stress for families trying to understand the different services available to them,” said Education and Early Childhood Development Minister Doug Currie while making the announcement.


Anticipating Advances in Treatment

The National Fragile X Foundation Blog |

There is and has always been treatment for fragile X syndrome. Combinations of special education, therapy and medications have always existed for FXS. But, without exception, my advisors from our Scientific & Clinical Advisory Committee tell me that they are cautiously optimistic that new treatments, based on our latest understanding Fragile X, will eventually have a much more profound and efficacious impact than existing treatments. Estimates vary, but most of the research world would say that new drug treatments could begin to become widely available in the next five years – barring any unforeseen safety issues. That last statement is important. Many unanticipated problems in the study of drugs for other conditions have significantly delayed or even halted development of a new treatment. No one wants to be responsible for causing a new problem in the process of trying to improve an existing problem, and the government (Food and Drug Administration, FDA) simply won’t allow for studies to progress until safety has been carefully demonstrated. Whatever the case turns out to be I can’t emphasize enough that almost everyone in the Fragile X professional community is optimistic and enthusiastic about the future.

Many of you are wondering if these new treatments will be of benefit for all ages and, again, my advisors are optimistic. While it seems obvious that the earlier an individual begins to receive treatment the better, the mouse and fly models, along with early studies, do seem to indicate that individuals of all ages and all degrees of impairment may show improvement.

No magic pill is anticipated for the treatment of fragile X syndrome. Treatment(s) will consist of medications prescribed and monitored by physicians knowledgeable about and competent in the administration of these new drugs. The exact drug or combination of drugs will need to be determined. Dosages will need to be calculated and adjusted as needed. The development of possible side effects will need to be monitored. Much work is also needed so that therapists and educators will be able to take advantage of the improved learning capabilities, improved memory, reduced anxiety and more focused behavior that, we anticipate, will be present. This is where the National Fragile X Foundation comes in. We are listening closely to the community of families and professionals and working hard to lay the necessary groundwork.


SAGE Labs teams on preclinical Autism model development

By Gareth Macdonald |

SAGE Labs will create rodent autism models for preclinical drug discovery and development in collaboration with advocacy group Autism Speaks.

The firm, part of Sigma Aldrich, will use its CompoZr zinc finger nuclease (ZFN) platform to create knockout rat strains representing various symptoms of autism and related disorders like Fragile X and Rett syndrome.

Unit director Edward Weinstien told Outsourcing-pharma the firm anticipates a strong response from the preclinical research sector when the new strains become commercially available next year.

“While there are many mouse models available for Autism research, I believe the overwhelming consensus is that the mouse is a suboptimal model for this condition.

“Our conversations with the research community, greatly facilitated by the members of Autism Speaks, make us believe that genetically engineered rats will be extremely valuable.”

Research funding

But despite SAGE’s positive prediction, quite what the level of pharmaceutical industry demand for rodent autism models remains to be seen.

According to a recent PhRMA report , at present, only nine of the 313 drugs currently being developed to treat all forms of mental illness are intended as therapies for autism spectrum disorders.

The reason, according to Life Science Analytics president Sarah Terry is risk. In an interview with Psychiatric News She explained that autism “is not very well understood [and] it’s somewhat seen as a syndrome and constitutes different symptoms.

“Very few [pharmaceutical] companies are [developing autism treatments at present] because it is high risk, and we’re still in the bench-science stage of understanding the disease.”


New Pfizer unit to take on autism

The Autism News | English

Currently, only one medication – Johnson & Johnson’s antipsychotic drug Risperidone – has been cleared by the Food and Drug Administration for use in autistic children. But autism advocacy groups are looking eagerly at Pfizer’s new model in the hopes that it can develop novel medicines to help alleviate autism symptoms – or, perhaps more important, delve into a number of its already established drugs that target neural pathways affecting autistic patients.

”Presumably, some drugs already developed could be helpful,” said Dr. Michael Tranfaglia, medical director and chief scientific officer of the FRAXA Research Foundation, a Newburyport, Mass.-based organization that funds research and does advocacy work for people with a form of autism known as Fragile X.

Tranfaglia said major pharmaceutical firms like New York-based Pfizer used to spend most of their time chasing the biggest blockbusters but are now gradually coming to realize they may have a treasure trove of older drugs that could target smaller populations, such as those with Fragile X. Fragile X is a rare form of autism in which one key gene shuts down, failing to produce an important protein, leading to learning problems and anxiety, among other symptoms.

Anabella Villalobos of East Lyme, the head of the neuroscience research unit at the Groton labs, said Fragile X gives scientists at Pfizer a relatively easy early target to investigate, since only one gene is involved. Most of the autism disorders – called a spectrum because they are so wide-ranging – involve multiple genes.

”This is all a work in progress,” said Villalobos, who is overseeing the autism unit on an interim basis.


SAGE Labs teams on preclinical Autism model development, By Gareth Macdonald, 28-Oct-2010 |

Related topics: Preclinical Research, Preclinical

SAGE Labs will create rodent autism models for preclinical drug discovery and development in collaboration with advocacy group Autism Speaks.

The firm, part of Sigma Aldrich, will use its CompoZr zinc finger nuclease (ZFN) platform to create knockout rat strains representing various symptoms of autism and related disorders like Fragile X and Rett syndrome.

Unit director Edward Weinstien told Outsourcing-pharma the firm anticipates a strong response from the preclinical research sector when the new strains become commercially available next year.

“While there are many mouse models available for Autism research, I believe the overwhelming consensus is that the mouse is a suboptimal model for this condition.

“Our conversations with the research community, greatly facilitated by the members of Autism Speaks, make us believe that genetically engineered rats will be extremely valuable.”


Genetics spurs next generation of brain research

Glenna Picton, Baylor College of Medicine |

HOUSTON — (October 21, 2010) — The field of neurogenetics soared during the decade since scientists first released a draft sequence of the human genome, said leaders in the field from Baylor College of Medicine and Emory University School of Medicine in Atlanta in an overview published in the current issue of the journal Neuron. The field, however, was ready to take off, building on the efforts that took place in the 1990s, resulting in the finding of critical genes such as that for Duchenne muscular dystrophy, Charcot-Marie Tooth and fragile X, said Dr. Huda Y. Zoghbi, professor of molecular and human genetics, pediatrics, neuroscience and neurology at BCM and Dr. Stephen T. Warren, professor of human genetics, pediatrics and biochemistry at Emory. Zoghbi is also director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and a Howard Hughes Medical Institute investigator.

Certainly, the researchers noted, “cloning the gene for Rett syndrome (performed in Zoghbi’s laboratory) would not have been possible in 1999 had it not been for the intense mapping and sequencing efforts of the X chromosome” that preceded it.

In their essay, Zoghbi and Warren note that national investment in such research has already paid off, not only in diagnosis and understanding of such diseases but also in the outlook for families afflicted by the disorders.


AFQ056 | Recherche cliniques : recrutement (Europe/Suisse)

Orphanet |

Syndrome de l’X fragile : recherche urgente d’adolescents volontaires pour une étude pharmacocinétique

En 2008 un essai thérapeutique multicentrique évaluant l’AFQ056, un nouvel antagoniste du récepteur métabotropique au glutamate mGluR5, a été effectué auprès de trente adultes porteurs du X fragile. Les résultats très encourageants de cet essai ont permis de lancer une nouvelle série de projets.
Actuellement une étude pharmacocinétique est en cours auprès de 12 adolescents de sexe masculin, âgés de 12 à 18 ans, au sein du service de génétique du Centre Hospitalier Universitaire Vaudois à Lausanne. De nouveaux participants sont actuellement recherchés pour terminer cette étude le plus rapidement possible. Il s’agit d’une étude pharmacocinétique qui permettra de déterminer la dose optimale pour la phase III qui doit débuter cet hiver.

Plus d’info (3 e item à partir du haut de la page) :::


Tackling cognitive deficits in Alzheimer’s disease: 1 ‘STEP’ at a time

La recherche dans le domaine de l’Alzheimer et du X fragile se recoupent. En voici une autre démonstration :

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. . . In addition to Alzheimer’s disease, increased levels of STEP in the brain have been implicated in other disorders such as schizophrenia and Fragile X, which is characterized by cognitive deficits and other disabilities. Once again, high levels of STEP proteins remove glutamate receptors from synapses and contribute to the cognitive deficits present in these diseases.

“These new findings need to be replicated, but if genetically reducing STEP levels is improving cognition, we could perhaps discover a drug designed to reduce STEP activity,” said Lombroso. “Our current work is focused on looking for STEP inhibitors.”


Donnez-nous le pouvoir d’aider des familles à mieux vivre avec un enfant différent!

Témoignage de Kim Fortin, mère d’un garçon X fragile :

Québec, le 4 octobre 2010 – « Après quelques années à attendre un diagnostic pour mon fils Loghan, à rencontrer des spécialistes de la santé physique et mentale tout en occupant un emploi, à me poser bien des questions, à m’oublier, la dépression est venue frapper à ma porte. Grâce au soutien de Nouvel Essor, j’ai repris confiance en la vie. Mon conjoint et moi bénéficions de moments de répit afin de reprendre notre souffle et nous ressourcer. Aujourd’hui, à 31 ans, j’ai retrouvé le sourire et je suis confiante en l’avenir pour mon fils et pour notre petite famille. »

C’est en ces mots bien sentis que Kim Fortin témoigne de son vécu afin de donner de l’espoir aux familles qui vivent avec un enfant différent ou qui traversent un moment difficile dans leur vie. Elle offre généreusement de son temps pour partager son vécu, afin de démontrer la réelle importance de soutenir les organismes du milieu.

Son fils Loghan vit avec un trouble envahissant du développement (TED), avec déficience intellectuelle. Il présente le syndrome du X fragile. Pour expliquer brièvement, il s’agit d’une anomalie héréditaire du chromosome X dont une partie est brisée ou endommagée ou, en d’autres mots, d’un retard global du développement. Dans la vie de tous les jours, ce jeune garçon ne parle pas et il n’a pas conscience du danger. C’est pourquoi il a besoin d’une surveillance constante. Il commence par ailleurs à communiquer à l’aide de photos illustrant sa vie quotidienne. Grâce aux multiples démarches de ses parents, Kim et Martin, Loghan vient d’entrer à l’école primaire Anne-Hébert, secteur Dunn, de Québec. Lorsqu’il voit l’autobus scolaire, il court pour y embarquer. Cette nouvelle étape dans la vie de la famille laisse présager pour lui une meilleure intégration sociale.

L’organisme qui a soutenu la famille de Loghan, Nouvel Essor, volet autisme – TED, pour la région de Chaudière-Appalaches, est un organisme associé à Centraide Québec et Chaudière-Appalaches, comme le sont plus de 180 autres ressources communautaires des deux rives. Centraide a lancé sa campagne de financement le 28 septembre dernier. L’objectif UNique de l’opération 2010 est de 11 111 111 $. Pour chaque dollar récolté, au moins 85 ¢ sont remis en dons et en services concrets, ici et maintenant. En 2010, il s’agit même de 88 ¢!

« Le sourire de cette mère de famille, Kim Fortin, résulte très certainement en partie du soutien que sa famille a reçu de gens qui œuvrent dans des organismes tels Nouvel Essor de Lac-Etchemin. En donnant de son temps pour livrer son histoire touchante et remplie d’humanité, elle nous apprend à s’ouvrir aux différences et à développer notre tolérance. C’est un message clair que tous, avec leurs petites ou grandes différences, ont leur place dans notre société », a déclaré le président-directeur général de Centraide Québec et Chaudière-Appalaches, Pierre Métivier.

« Lorsque vous donnez à Centraide, vous donnez plus que de l’argent. Vous donnez la possibilité à des gens vulnérables de regagner confiance en la vie, de garder des familles unies… C’est pourquoi il est important de donner aux ressources d’ici, peu importe le montant. J’invite les gens, dont les jeunes, à investir de leur temps comme je le fais. Ça apporte du vrai bonheur. Investir ou s’investir dans Centraide et ses organismes associés peut rendre la vie plus douce à un membre de notre famille, à un voisin, à un ami, à un collègue de travail ou à toute personne qui connaît un moment de vulnérabilité. Nous nous pensons souvent invincibles, du haut de nos 20 ou 30 ans, mais personne n’est à l’abri. Je l’ai appris. Aujourd’hui, j’apprends à me forger de nouveaux rêves », a ajouté Kim Fortin.


Reducing glutamate signaling pays off in fragile X


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Nature.com, Gary J Bassell & Christina Gross


Basic science on disease mechanisms is driven by hypotheses that persist long enough to be frequently disproved or complicated by tests of principle in animal models. Rarely, but all the more compellingly, a scientific model derived from basic research turns out to be appropriate for actual medical therapy in people. An exciting example is the report by Dolen et al.1 in a recent issue of Neuron.

This study is a major step toward the ultimate goal of treating fragile X syndrome (FXS), an inherited form of mental retardation and the predominant monogenetic cause of autism. The study is also a genetic test of the ‘mGluR theory’ of FXS, which postulates that an important consequence of FXS is excessive signaling through group 1 metabotropic glutamate receptors (mGluRs), a specific subfamily of seven-transmembrane receptors involved in different forms of synaptic plasticity. The theory holds that the disease might be treated by mGluR antagonists. Dolen et al.1 now show that genetic reduction of mGluR signaling can reverse several typical FXS symptoms in mice and provide the first comprehensive evidence that the mGluR theory of FXS holds true.


Results of first clinical trial of minocycline in Fragile X are very promising!

October 12, 2010 |

Results of the first clinical trial of minocycline in Fragile X patients were published today in BMC Neurology, and they suggest that this medication can improve challenging behaviors commonly seen in Fragile X syndrome.

Open-label add-on treatment trial of minocycline in fragile X syndrome
BMC Neurology 2010, 10:91 Carlo Paribello, Leeping Tao, Anthony Folino, Eizabeth Berry-Kravis, Michael Tranfaglia, Iryna M Ethell, Douglas W Ethell

Twenty males and females with Fragile X, ages 13-32, participated in this open-label add-on trial at the Fragile X clinic in Toronto, Canada. Dr. Carlo Paribello, himself father of two boys with Fragile X, led the trial which was funded by FRAXA. Patients received either 100 mg or 200 mg of minocycline daily, and their behaviors were evaluated prior to treatment and again 8 weeks after daily minocycline.

Behavioral scores showed striking improvement and the drug was generally well tolerated. The most significant side effect noted was, in blood tests, an asymptomatic seroconversion to a positive ANA in two people. This is a nonspecific marker of immunoinflammatory connective tissue diseases, so physicians who prescribe minocycline should be aware of its risk for inducing potentially serious autoimmune phenomena.


Everything Everything Set For Fragile X Syndrome Fundraiser In London

Gigwize.com |

Host of acts line-up for good cause…

Everything Everything and New Young Pony Club are among the acts set to appear at a special fundraising event in London next month.

The Fabric4X gig, at Fabric on November 11, aims to raise money for Fragile X Syndrome, which is the most common genetic form of inherited mental impairment.
The Invisible and Striken City will perform live, while Everything Everything, New Young Pony Club and Micachu are set to DJ.
Planningtorock, The 2 Bears, Kwes and Cocadisco are also on the bill.

Fragile X Syndrome affects 1.4 million people worldwide and around 17.5 million people carry the Fragile X Syndrome gene.
Currently there are many medications and therapies that can help suffers of the disease but no cure has yet been found.


New tests for fragile X promise routine screening

Victoria Stern, Sfari.org |

A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.

“Finding a cheap and accurate test has been the first big holdup for fragile X testing,” says Don Bailey, president of the National Fragile X Foundation.

In the past two years, three research companies as well as several research groups, including Wisconsin’s Department of Health, have developed tests for fragile X syndrome. In February, New Jersey-based Quest Diagnostics introduced XSense, which has already been adopted for use in 50 states. Other companies, including Texas-based Asuragen Inc. and Abbott Laboratories have not yet made their tests available to physicians.


MIT Sees Molecules at Work in Living Brain Cells

News.softpedia.com |

Researchers at MIT found a way of observing molecules at work inside living brain cells, which also explains the molecular mechanisms of synapse formation.

The studies carried out by researchers Amar Thyagarajan and Alice Y. Ting, affiliated with MIT’s Picower Institute for Learning and Memory and the MIT Department of Chemistry, could also help clear the mystery of synapses malfunction in diseases like autism or Fragile X syndrome.

In order to observe molecules inside the brain cells, the researchers studied the interaction between neurexin and neuroligin proteins from the neuron’s surface, which are two of the many adhesion molecules in the brain that control synapse formation, growth, function and plasticity.



Fabric London |

FABRIC4X is a fund raising event to help raise money and awareness for ‘Fragile X Syndrome’. A collection of musicians have kindly agreed to waive their fees, and perform or DJ at the event which is being held at fabric, on 11th November 2010. The doors open at 7pm and will feature live performances and DJ sets from The Invisible, Everything Everything, New Young Pony Club, Planningtorock and The 2 Bears.

Fragile X Syndrome is the most common genetic form of inherited mental impairment. There are 1.4 million people affected by Fragile X Syndrome worldwide and 17.5 million people who carry the Fragile X Syndrome gene. Both males and females, from all races and ethnic groups are affected worldwide.

At the moment, Fragile X syndrome doesn’t have a high profile in the UK or worldwide, but we can change that. It’s vital we give researchers the opportunity to learn more about Fragile X Syndrome and Autism, and how the symptoms can be minimised and, ultimately, reversed.

All proceeds raised from the event will help fund The University of Edinburgh’s major new centre for Fragile X Syndrome and Autism Research – this is the first UK Centre for Research into Fragile X Syndrome and related disorders.

The FABRIC4X event follows other fundraising initiatives organised to support research into Fragile X Syndrome. These started with a climb of Mount Kilimanjaro in 2008, called Kili4X (meaning Kilimanjaro for Fragile X). The same group of fundraisers are keeping the awareness building and fundraising on-going, by undertaking a road trip from London to Timbuktu, across the Western Sahara. This trip will take place in January 2011 and is named Sahara4X. FABRIC4X organisers are keen to support these efforts by creating a live music event which will sit alongside these initiatives.

SYNDROME DE L’X FRAGILE – Un quotidien lourd et compliqué

Diane Tremblay, Journal de Québec |

Loghan, cinq ans, est le superhéros de ses parents qui accueillent chaque progrès comme une immense victoire. L’enfant, qui est atteint d’une anomalie héréditaire du chromosome X, accuse un retard global de développement depuis sa naissance.

Sur le plan physique, Loghan présente toutes les caractéristiques d’un petit garçon de cinq ans. Il est fort et costaud, sauf qu’il a l’âge mental d’un enfant d’un an et demi.

Du point de vue médical, Loghan souffre du syndrome de l’X fragile, qui est la première cause de retard mental héréditaire après la trisomie 21. Étant une maladie rare, on ignore combien de personnes exactement sont atteintes de cette pathologie au Québec puisqu’il n’existe aucun regroupement.

Les symptômes s’apparentent à l’autisme. Géné­ralement, ce sont des enfants qui éprouvent de la difficulté à communiquer et qui vivent dans leur bulle.


Addex’ ADX10059 Has Potential For Parkinson’s Disease Levodopa Induced Dyskinesia (PD-LID)


… Data from Addex and other researchers show that mGluR5 inhibition has therapeutic potential in multiple indications. Addex has prioritized development in GERD and migraine; others are pursuing PD-LID, Fragile X syndrome and neuropathic pain.


Cortex Obtains Exclusive Worldwide Rights for the Combination of AMPAKINE(R) and mGluR5 Compounds for the Treatment of Fragile X

Marketwatch.com |

IRVINE, Calif., Oct 06, 2010 (BUSINESS WIRE) — Cortex Pharmaceuticals, Inc. (OTCBB (CORX)) announced that the rights to a published patent application entitled, “Pharmacological Modulation of Positive AMPA Receptor Modulator Effects on Neurotrophin Expression” (PCT/US2007/066947), has been licensed exclusively to Cortex from the University of California.

This broad method-of-use patent application covers the combined use of AMPAKINE compounds and metabotropic glutamate receptor type 5 (mGluR5) antagonists for the treatment of Fragile X syndrome, the most common genetically proven cause of autism, and for the treatment of Parkinson’s disease, Huntington’s disease and other neurodegenerative disorders. “Early clinical studies with mGluR5 antagonists have shown promising results in Fragile X patients, and in animal studies the combination of these agents with our AMPAKINE compounds provides additional benefit via synergistic effects. If these effects hold up in clinical studies, the combination of these agents could be an important treatment option for Fragile X patients,” commented Dr. Mark A. Varney, President and CEO of Cortex.