080210xf's Blog

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

Archive for February, 2011

Syndrome du X fragile : entrevue avec Pr. Vincent Desportes

Fondation Jérôme Lejeune |

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Quels sont les effets du médicament constatés lors de cet essai ?

Son effet sur l’ensemble des troubles comportementaux est apparu très clairement : l’irritabilité et les comportements répétitifs sont diminués, les patients sont apaisés, plus attentifs, plus réceptifs. En revanche, il faudra un essai sur une plus longue durée et davantage de patients pour savoir s’il a un effet direct sur la déficience intellectuelle ou si celle-ci est réduite simplement du fait de la réduction des troubles comportementaux. De manière inattendue, nous avons observé que les patients les plus améliorés étaient ceux chez qui le gène en cause (FMR1) était totalement inactivé ! C’est un argument fort pour espérer que ce médicament cible un mécanisme essentiel et constitutif du syndrome de l’X fragile.

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Syndrome du X fragile : étude clinique mondiale

Fondation Jérôme Lejeune |

À partir de février 2011, le dév. de l’AFQ056 passe en phase 3 avec la collaboration de 22 centres ds le monde, situés notamment aux USA, en Australie et dans de nombreux pays européens dont la France. Plus de 160 patients adultes seront concernés. À l’automne 2011, 1 étude portant sur des patients adolescents de 12 à 17 ans viendra compléter l’étude sur les adultes.

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Congrès scientifique international sur l’X fragile à l’Institut Pasteur, Paris :24 26 mars prochain

Sous la présidence d’honneur de Randi Hagerman, du MIND Institute, CA, USA |

Chers Collègues,Chers Amis,

Je suis très heureuse de vous inviter aux deuxièmes Journées Internationales Jérôme Lejeune (JIJL), qui auront lieu à Paris, à l’Institut Pasteur. Cette conférence, organisée par la Fondation Jérôme Lejeune, réunira médecins, chercheurs et professionnels de santé autour d’un thème important et en pleine expansion : Déficience intellectuelle d’origine génétique : progrès vers des traitements ciblés

En effet, au cours des dernières années, voire même des derniers mois, la recherche sur le déficit intellectuel a fait un bond en avant spectaculaire, de la souris à l’homme, particulièrement dans le domaine thérapeutique. Des experts de haut niveau nous donneront leurs informations sur les enjeux généraux et spécifiques de la thérapeutique appliquée à la déficience intellectuelle. Notre programme scientifique met l’accent sur les nouveautés dans la recherche en biologie moléculaire, génétique, neurobiologie et neuropsychologie conduisant à de nouveaux essais thérapeutiques dans de nombreux désordres du neuro-développement. Les traits communs à ces désordres du neuro-développement seront mis en évidence et il est probable que nombre de traitements exposés seront utiles à plus d’une pathologie.

Ces trois journées de conférence permettront aux chercheurs et cliniciens d’échanger sur leurs connaissances et leurs idées et de stimuler des collaborations dans le domaine des thérapeutiques du futur.

Une exposition de posters présentera les travaux récents sur ce thème riche et intéressant. A la fin de la conférence, des prix seront remis aux deux meilleurs posters, ceci afin de souligner les étapes clefs réalisées dans le traitement des patients atteints de déficit intellectuel.

Nous souhaitons que cet évènement vous apporte l’information scientifique la plus récente possible, ainsi que les suggestions et contacts les plus utiles à votre activité professionnelle.

Dans cette perspective, je me fais une joie de vous accueillir à Paris pour ces trois journées.

Professeur Randi HAGERMAN
Présidente du Comité Scientifique
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Molecular mechanisms: Men with fragile X have enlarged brains

Jessica Wright. Sfari.org |

Men with fragile X syndrome have larger brains overall than controls do, but less matter in regions involved in language and social interaction, according to a study published in January in Neuroimage.

Fragile X syndrome is caused by a mutation that prevents expression of the fragile X mental retardation protein, or FMRP. The disorder causes learning disability, social deficits and, in some cases, autism. Mouse models and postmortem studies of people with the disorder have revealed neurons that have larger and denser spiny branches, or dendrites, compared with neurons in controls.

There is less agreement on brain volume differences in people with the syndrome, but this could be the result of the confounding factors of gender and age, which can also affect brain volume, according to the researchers.

Based on magnetic resonance imaging scans of 17 men with fragile X syndrome and 18 age-matched healthy controls, those with the syndrome have more brain tissue in the caudate nucleus — a region involved in learning and memory — and in the right brain stem, which is involved in motor coordination and higher-order cognitive functions, the study found.

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Researchers win congressional grant to study fragile X

$3M grant will fund efficacy tests of new approach to treating children with fragile X, the most common single-gene cause of autism.

Three internationally respected UC Davis researchers — two expert in fragile X syndrome and one in epilepsy — have joined forces to test the efficacy of an innovative new approach to treating children with fragile X, through a $3 million grant from the U.S. Congress.

The researchers will explore the safety and effectiveness of a synthetic neuroactive steroid drug, ganaxolone, for treating the anxiety that is common in children with fragile X, a condition that is the leading cause worldwide of inherited intellectual disability and the most common single-gene cause of autism. The collaboration includes Randi Hagerman, an international authority on fragile X-related disorders, Michael Rogawski, known worldwide for his epilepsy research, and David Hessl, an expert in psychophysiologic studies.

“We believe that this drug will be highly effective for treating the anxiety, inattention and impulsivity in children with the full fragile X syndrome mutation,” said Hagerman, who is medical director of the UC Davis MIND Institute and treats people with fragile X syndrome. “This compound opens up a whole new avenue of treatment for people with fragile X.”

Fragile X syndrome is the result of a defect on the X chromosome. It is estimated to affect 1 in 3,600 males and 1 in 4,000 females. One-third of all children with fragile X syndrome develop autism and approximately 5 percent of children with an autism-spectrum disorder have fragile X.

“In fragile X syndrome, in addition to the intellectual disability, there is a range of learning disabilities and other neurological problems such as seizures,” said Rogawski, who is chair of the UC Davis neurology department. “Ganaxolone originally was developed to treat epilepsy and has anti-seizure and anti-anxiety properties.”

For the study, the researchers will enroll 60 children between the ages of 6 and 17 years over a four-year period. Participants initially will receive either ganaxolone or a placebo and then after six weeks will receive the opposite medication, ganaxolone or a placebo. The effects will be studied through a variety of tests and outcome measures, including eye-tracking to determine children’s ability to make eye contact and levels of hyperactivity. The drug will be provided by Marinus Pharmaceuticals.

Funding for the study is provided by the Department of Defense Peer-Reviewed Medical Research Program of the Congressionally Directed Medical Research Program.

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Reported Rise in Autism Coincides with Rise in Autism Treatment Drugs

By BC Bass |

SAN NARCISO, Calif. — According to figures released by the Centers for Disease Control and Prevention (CDC), autism disorders have increased more than 60 percent over the last four years. Behavioral health scientist Catherine Rice, Ph.D., says it’s difficult to tell how much this data reflects actual increases in the disorder versus improvements in identifying conditions. Geraldine Dawson, Ph.D., the chief science officer for Autism Speaks, told WebMD, “Two decades ago, we were looking at a prevalence of one in 5,000 children. Now we’re looking at one in 100. That really is a staggering increase.”

But this dark cloud has a silver lining. Scientists think they may have identified the mutated chromosome responsible for causing the onset of the disorder. More importantly, and perhaps more presciently, pharmaceutical companies released an unprecedented number of drugs targeted at suppressing it, months before it was even discovered.

Fragile X
Mark Bear, who directs the Picower Institute for Learning and Memory at MIT, has discovered a system in the brain that could dramatically improve the quality of life for thousands of people with Fragile X.

Fragile X is a mutation on the X chromosome that can cause mental retardation and autism. Unlike the hotly debated Chemical X, which bestows superhuman abilities and the power of flight on prepubescent girls in undocumented studies, Fragile X appears to disrupt a system in the brain that regulates synapses — the connections between brain cells. Bear equated the condition to a car with missing breaks. Others have equated it to a marathon bong session at a Burning Man festival.

“Dire as it may seem, this news couldn’t have come at a better time,” said Quint Scroop, a senior lobbyist and moral champion from Pharmaceutical Research and Manufacturers of America (PhRMA), which has also lined up with a far-right Christian advocacy group to fight legislation supporting abortion-rights issues.

“Coincidentally enough,” Scroop continued, “the tremendous increase in the number of autism cases being diagnosed by doctors correlates directly to announcements by pharmaceutical companies that they have identified a vast array of drugs that can be used to treat autism. With so many of these doctors under contract with drug manufacturers, access to the medications is expedited. It’s really a win-win for autistics.”

New Drugs Winning the War
“I’ve always found the term ‘war on drugs’ quaint,” Scroop opined. “It means there’s a war and that drugs are winning. Well, there is a war — against this crippling disorder we call autism. There’s no reason why the people who suffer from it need to remain pariahs, throwing in their lots with other incurables. And, yes, the drugs will prevail.”

Scientists employed by leading pharmaceutical companies have indeed identified several drugs that seem to correct the problems inherent to Fragile X Syndrome. And they’re busy making even more. Cambridge, MA-based Seaside Therapeutics, for example, revealed that is has raised $30 million to pursue clinical trial development of new therapies for Fragile X and autism.

“Some of the most exciting developments with these drugs are the side benefits,” extolled a spokesperson for another leading drug producer. “In addition to curbing complications with Fragile X, our drugs are also proving to make children more docile and controllable. They stop toddler depression, abate restless leg syndrome, and even increase penis size.”

With the exception of commonplace side effects such as nausea, diarrhea, nose bleeds, suicidal thoughts, risk of stroke, irrational fear of water, and accelerated weight gain, the drugs are sure to succeed.

“We’re really pushing hard for legislation to enforce mandatory autism screening and treatments in the public schools,” boasted Scroop. “Parents should listen to and proactively follow the screening recommendations of our physicians, regardless of whether they have concerns.”

The proposed — and certain to pass — public testing and treatment program will be administered initially by only those doctors approved by the drugs’ manufacturers.

“It’s a safety thing,” Scroop explained.

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