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Families of Spinal Muscular Atrophy Awards Grant to Dr. Brian Kaspar at Nationwide Children’s Hospital of The Ohio State University For Gene Therapy Development for Spinal Muscular Atrophy.
February 28, 2010.

Gene therapy is an approach to treating diseases by replacing mutated genes, correcting abnormal genes, or modifying the expression of genes. Gene therapy works by administering genetic material, often through the use of a virus, rather than the use of a traditional small molecule drug.  In this case it involves replacing the DNA for the SMN1 gene, which is mutated in SMA.  This work will appear as an advanced online publication  in Nature Biotechnology on February 28, 2010.

Dr. Kaspar’s group at Nationwide Children’s Hospital of The Ohio State University (OSU) has discovered that gene therapy can fully rescue SMA mice for normal function and lifespan by delivering the SMN gene to motor neurons through injection into the blood stream.   This is done using a viral vector called AAV9, which targets the spinal cord motor neurons and muscle efficiently.

Dr. Kaspar’s group, along with colleagues at OSU including Drs. John Kissel, Arthur Burghes, and Jerry Mendell will embark on moving this promising therapy forward towards clinical trials by conducting a number of key experiments needed for an IND application.  An IND is submitted to the FDA to begin human clinical trials.

With funding from Families of Spinal Muscular Atrophy, Dr. Kaspar’s team will begin the initial studies needed for an IND.  This specific project will entail assessing the ability of the therapy to reach motor neurons in larger animal species, since most of the initial work has been in mice so far.  These findings will be key IND-enabling data, which will further establish the feasibility and safety of this therapy for human use.

“Funding from FSMA provides crucial support for advancing our studies.  We have assembled our translational team to move these exciting studies forward in a safe and rapid manner” states Dr. Brian Kaspar of Nationwide Children’s Hospital.  Dr. Arthur Burghes of OSU states, “We are collecting the  pertinent data that will be required by the FDA, which regulates therapy development in the US, to begin clinical trials in SMA patients.”  “We are pleased to be partnering with FSMA to begin the process of moving this exciting and promising new therapeutic approach forward to clinical trials", adds Dr. John Kissel of NCH/OSU. 

This study is the first step in a series of experiments that will be needed to ready this therapy for human clinical trials. The full battery of IND-enabling studies is designed to establish both the potential benefit and risk to patients receiving the therapy. 

For a new gene therapy, this set of experiments will likely include:  1) Efficacy studies in animal models of disease, which already show remarkable benefit here;  2) Biodistribution studies and safety studies, like those being funded in this project;  3) Non-clinical safety studies to establish endpoints for the clinic; and 4) Demonstration of the quality control and quality assurance in the manufacturing process.  This set of scientific studies will cost several million dollars to generate.

“Families of SMA is very pleased to be facilitating the advance of this very promising candidate therapy for SMA into the early pre-clinical drug development phase.  Our funding will help generate key data in assessing the feasibly of moving this therapy towards human clinical trials”, said Jill Jarecki, Ph.D. Research Director at FSMA.

This project was assessed by the FSMA Scientific Advisory Board (SAB).  At FSMA, we believe that expert and independent prioritization and oversight of research projects is critical.  This approach ensures that FSMA funds only the most promising research, and that the funded projects are run in a professional and efficient manner under the guidance of world-class experts.

About Families of SMA:
Families of SMA funds and directs the leading SMA research programs.
Our successful results and progress from basic research to drug discovery programs to clinical trials provides real hope for families and patients.
-Families of SMA has funded 5 multi-center clinical trials for existing drugs that have potential for SMA.
-FSMA has directed and funded 4 leading new drug development programs for therapies specially designed to treat SMA.

We have raised and funded over $50 million for SMA research.  Our support comes from generous individual donations and numerous fundraising events held by volunteer families and our Chapters.
Click here to make a donation to support our research programs.
We are a non-profit, 501(c)3 tax exempt organization.  Today we have 27 Chapters throughout the United States and over 65,000 members and supporters.  We are a collaborative organization where families and friends and researchers are all working together towards the same goal.

Click here for more general information on gene therapy from The American Society of Gene and Cell Therapy.