Breaking News: First Therapeutic Gene Therapy to Treat an Inherited Neuropathy is Approved for Clinical Trial!

by | Mar 6, 2015 | 9 comments

hhhThe first disease community to receive a therapeutic gene to the spinal cord for an ultra rare inherited neuropathy is Giant Axonal Neuropathy (GAN). Congratulations to Hannah’s Hope Fund (HHF), a 501(c)3 public charity, which has driven this collaborative research in less than six years. Six million dollars has been raised to date to fund pre-clinical and clinical research on this rare disease.

The Phase 1 trial is recruiting – info here: Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy patients. A benign viral vector known as adeno associated virus serotype 9 (AAV9) is the “Fed-Ex truck” delivering a healthy copy of the GAN gene to the nerves in the spinal cord of affected patients. It is administered by a lumbar puncture to the cerebral spinal fluid. This trial will be housed at the National Institutes of Health, in Bethesda, MD.

If the AAV9 vector is well tolerated in the central nervous system, this gene therapy vector can be used for any genetic disorder whose targets are motor and sensory neurons, and whose causal gene size is small enough to fit inside the viral capsid. This is a turning point for rare neurological diseases and the inherited neuropathy community in particular. The impact of this work can potentially help other forms of Charcot-Marie-Tooth (CMT) and related diseases. Our hope and prayers for a successful outcome go out to all the families with GAN!

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  1. Alexander

    Hi there, I have the variant of Charcot Marie tooth syndrome CMTX-6 with a mutation in the PDK3 gene. Is there the possibility that this treatment can be used for my neuropathy? If so, how many years could it be until it is able to be used seeing it is among the rarest of its type? I’m from Australia

  2. Madiha shahid

    Hi i m madiha Shahid and m suffering in inherited neutopathy my age is 33 and m in Australia plz let me know how could i try this gene therapy

  3. sajad

    I am about 30 years old and I have charcot Marie tooth,but fortunately I can walk and run, .my most significant problem is weakness of my foot muscles. I am trying to make them stronger. According to my research, a drug called PXT-3003has been manufactured. I’d like to know if this drug is effective and available.
    Mean while, I would like to know that ,how long does it takes for gene therapy to be a public treatment.

  4. Bonita Brown

    Please send me all the information on gene therapy for Charcot-Marie-Tooth. Thank you so much

  5. Michele

    Is Charcot Marie Tooth 1b a good requirement in order to partecipate to above clinical trial ??
    Let me now.

  6. Zahir Akhtar

    Hi, I too have a hereditary neuropathy disease called Charcot Marie-Tooth and would like to know if there are any trial therapies for curing this condition available in London UK…


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