Posted at April 13, 2012 | By: | Categories: Keeping You Informed,News Reports and Commentaries | 20 Comments

Fragile X Syndrome Can Be Reversed in Adult Mouse Brain

Robert Miller
Executive Director
National Fragile X Foundation

Readers should know that the researchers involved with this study, and their affiliated institutions and companies, are highly regarded and well-known in the Fragile X community of professionals.

(Apr. 11, 2012) — A recent study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS), the most common form of inherited intellectual disability and a leading cause of autism. The paper, published by Cell Press in the April 12 issue of the journal Neuron, describes the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established.

Fragile X patients suffer from a complex set of neuropsychiatric symptoms of varying severity which include anxiety, hyperactivity, learning and memory deficits, low IQ, social and communication deficits, and seizures. Previous research has suggested that inhibition of mGlu5, a subtype of receptor for the excitatory neurotransmitter glutamate, may be useful for ameliorating many of the major symptoms of the disease.

The new study, a collaboration between a group at F. Hoffmann-La Roche Ltd. in Switzerland, led by Dr. Lothar Lindemann, and a group at the Picower Institute for Learning at the Massachusetts Institute of Technology, led by Dr. Mark Bear, used a newly developed mGlu5 inhibitor called CTEP to examine whether pharmacologic inhibition of mGlu5 could reverse FXS symptoms.

The researchers used a mouse model of FXS and administered CTEP after the brain had matured. “We found that even when treatment with CTEP was started in adult mice, it reduced a wide range of FXS symptoms, including learning and memory deficits and auditory hypersensitivity, as well as morphological changes and signaling abnormalities characteristic of the disease,” reports Dr. Lindemann.

Although the CTEP drug itself is not being developed for humans, the findings have significance for human FXS. “The most important implications of our study are that many aspects of FXS are not caused by an irreversible disruption of brain development, and that correction of the altered glutamate signaling can provide widespread therapeutic benefit,” explains Dr. Bear.

The researchers agree that future work may shed light on treatment of FXS in humans. “It will be of great interest to see whether treatment of FXS in human patients can be addressed in a similar broad fashion and with a similar magnitude as was suggested by our preclinical data,” conclude Dr. Lindemann and Dr. Bear. “We anticipate that disturbed signaling can be corrected with other small molecule therapies targeting mGlu5 that are currently being used in human clinical trials.”

Source: ScienceDaily


  • They think they might be able to reverse it

  • This is great news and very promising. I hope it’s validated & accepted for human use soon. I would love to see my adult children with FXS benefit from it!

  • my daughter is 17 and on these clinical trials, she is desperate to feel better so praying that she does once the drugs have had chance to build up over few months, had to let her try and will help the thousands with FXS the quicker we finish these trials and they approved

  • Oh please let there be a cure in my boys lifetime. Not because they need to be ‘made better’ but all the time society needs to be ‘made better’ my boys will never be allowed to reach their full potential. So if they can be helped to enable their inclusion in society I am all for it…

    • that the show i saw with her last week was at the same standard as it was with Idina and Kristen!Rachel, Louise and Lee plaeyd their characters phenomenally each song was sung so well, it was like i was just listening to the soundtrack but with their own twists on it!I would happily see this musical again and again!!

  • This is good news to hear. I hope further studies will be funded and geared toward humans. My son has severe physical and intellectual developmental delays. I would love for him to walk and talk soon and be on the same level as his peers. Keep the research going!!!

  • This new information gives new hope
    to many.How very exciting!

  • Awesome news. I have a son 20 years old with FXS and this treatment is a sign of something I have prayed for many years now. Years ago, they said it couldn’t be done. Today, it finally appears to be a potential reality. Please continue to monitor this activity and provide updates in the future. Thank you

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