New Drug on the Verge of Becoming First Treatment for Fragile X Syndrome

HBI Blog / New Drug on the Verge of Becoming First Treatment for Fragile X Syndrome

The University at Buffalo in collaboration with Tetra Therapeutics took a major step in the discovery of a new drug offering first-class treatment for Fragile X Syndrome – a leading genetic cause of autism.

The drug, BPN14770, was used on adult male patients with Fragile X Syndrome and showed positive results in phase 2 clinical study.

Fragile X Syndrome

“In addition to being safe and well-tolerated, treatment with BPN14770 led to significant cognitive improvement, specifically in the language domains, and we also saw a clinically meaningful benefit in overall daily functioning”, said Mark Gurney, Ph.D., founder, and CEO of Tetra Therapeutics.

What is Fragile X Syndrome?

A genetic disorder caused by a change in FMR1 gene. Gene FMR1 makes a protein called FMRP, which is required for brain development. In FXS, FMRP failed to make this FMRP protein.

Males with FXS have worst syndrome than females. About 1 in 7,000 males and 1 in 11,000 females have been diagnosed with FXS.

The drug is capable of preventing the activity of phosphodiesterase-4D, an enzyme playing a vital role in learning, memory formation, traumatic brain injury, and neuroinflammation.

The potential of BPN14770 to improve cognitive and memory function can also pave the way to treating Alzheimer’s disease, development disabilities, schizophrenia, and traumatic brain injury.

8 thoughts on “New Drug on the Verge of Becoming First Treatment for Fragile X Syndrome

    Amazing.What about turning on the gene so it works? Is that possible?

    Judith Israel
    Posted January 13, 2021 at 7:30 pm

    Sounds promising.

    Judith Israel
    Posted January 13, 2021 at 7:31 pm

    How do we get involved in this study. I am desperately trying to find anything that will help our a full mutation fragile X 10-year-old son. Please help and advise.

    Rosaria Cataldo
    Posted January 16, 2021 at 12:06 am

    So excited. My son is 48 high functioning. Low academic. Would loStolpere info on this.

    Iris Stolper
    Posted January 16, 2021 at 12:21 am

    Please keep us updated

    Carol Woodard
    Posted January 16, 2021 at 2:43 am

    I am interested in learning more. Could you send me additional information about this new drug and the research being done so far. Thank you.

    Maria Barker
    Posted January 16, 2021 at 4:31 pm

    This is awesome. My self having this along with my son this is such great news!!

    Brandy Jackson
    Posted January 17, 2021 at 3:50 am

    Hi..thank you so much for this information..Please keep us updated..My son is 17 years old.. and has FX

    Dean Setaro
    Posted January 17, 2021 at 4:09 am

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