Gene Therapy Program

The TeamLead Researcher Dr. Brian K. Kaspar, Ph.D. Associate Professor The Research Institute at Nationwide Children’s Hospital /The Ohio State University working on Gene Delivery of SMN using AAV9 vector.

Co-Collaborator/ Co-Lead Dr Arthur Burghes, Ph.D Professor Ohio State University has contributed to 31 publications on Neuromuscular diseases.Burghes Labs at OSU have made significant contributions to Spinal Muscular Atrophy which include The Carrier Screening test for SMA, The Genetic Diagnostic test for SMA, and The Original SMA Mouse Model.

Jerry R. Mendell, M.D.- Dr. Mendell currently serves as Director of the Center for Gene Therapy at The Research Institute at Nationwide Childrens Hospital and holds Professorships in Neurology, Pediatrics, Pathology, Physiology and Cell Biology at the Ohio State University. Dr. Mendell has had a long history of partnering with the MDA on neurological diseases and brings an extensive track record of working with the FDA to successfully move programs from the lab and into clinical trials.The ProgramThe Kaspar Labs using AAV9 for Gene Delivery has progressed at an incredible pace.

Initial funding for Kaspar Labs using AAV9 first came in from the SMA organizations in 2010. This program has the potential to be in Human Clinical trials by 2012.

A  combined total of $600,000 has been donated to Kaspar Labs from multiple SMA Organizations and the amount of information that has come from that contribution is astounding. Similar programs in the pipeline have received between $2,000,000 and $15,000,000.

The Pre-clinical data for this program has been the most promising of any other therapy to date for Spinal Muscular Atrophy. In the most severe animal model of Spinal Muscular Atrophy early intervention has validated a full reversal of the disease. In larger animal models targeted motor neurons were hit successfully and efficiently suggesting the ability to stop progression in more advanced subjects.

AAV9 effectively crosses the blood brain barrier efficiently  which has been a major hurdle blocking the advancement of many SMA therapies. This separates AAV9 from other Gene Therapies such as rAAV and AAV that must be administered via cranial injections or intrathecal injections directly into the spinal fluid. AAV9 can be injected directly into the blood stream similar to an immunization shot.

AAV9 virus has already been introduced into thousands of human subjects through various clinical trials. The AAV9 vector has proven to be effective and well tolerated in humans.

The overwhelming positive results of pre-clinical efficacy and initial safety studies have provided the impetus for advancing this program towards the clinic. The initial talks with the FDA have given a clear path forward for studies that are necessary for a formal IND application.

For the very first time in over 20+ years of SMA Research here is a program that has overwhelming pre-clinical data that shows success on the most severe animal model of the disease. These pre-clinical studies suggest that Gene Delivery using AAV9 specifically is an effective and well tolerated approach for Spinal Muscular Atrophy. All research is a gamble and this program has shown the greatest odds of a successful outcome to date. To read well written published articles on The Kaspar Labs please click here:

Nature Biotech Vol 27 issue 1.pdf

Nature Biotechnology Mansucript Complete 2009 Kaspar.pdf



Comments (10)
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    Keri May 1 2012 - 12:41 pm Reply

    I am making a donation in honor of Avery Lynn Canahuati. Before reading Avery’s Bucket List blog I had never heard of this disease. May her family take comfort in knowing how she touched those who read her story.

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    Amy May 1 2012 - 4:37 pm Reply

    I’ve also made a donation in honor of Avery Lynn. I read her story on CNN and then followed her blog the past few days but was so saddened to see the news this morning. I hope we can help her reach her goal for the SMA research.

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    Lori May 1 2012 - 8:32 pm Reply

    I am making a donation in honor of Avery Lynn. May her family take comfort in knowing her story touched so many people and we are all hopful for a cure for this terrible disease. Her parents and family are in my thoughts and prayers.

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    Cassie Hernandez May 2 2012 - 8:44 am Reply

    This is in honor of sweet Avery Lynn. May this donation help find a cure and right this wrong.

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    Dani Jean Ward May 2 2012 - 8:56 am Reply

    I am making my donation in honor of Avery Lynn. God bless her and her family and may they find strength in the amazing work they have done for the SMA cause.

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    LM May 2 2012 - 1:20 pm Reply

    For Avery Lynn.

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    Barbara McAveeney May 3 2012 - 3:47 pm Reply

    I, too, was guided here by Avery and her family. It’s heartbreaking that Avery’s gone so soon; but, she’s done a lifetime’s work in just a few short months. She will be missed, but, she turned on the lights before she left.

    Bless you all.

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    Laura Worthington May 3 2012 - 7:37 pm Reply

    Avery may be physically gone, but her spirit continues to live. She has told the world her story and in just a matter of days, brought SMA from the darkness straight into the front spotlight. I donated in her honor.

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    JD May 7 2012 - 11:45 am Reply

    For Avery Lynn Canahuati

  • Avatar

    William May 10 2012 - 6:52 pm Reply

    For Avery

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