Families of SMA and Nationwide Children’s Hospital Announce Multi-Million Dollar Award from NINDS
Nationwide Children’s Hospital (Columbus, OH) and Families of Spinal Muscular Atrophy (Elk Grove Village, IL) announce the award of a multi-million dollar cooperative agreement from the National Institute of Neurological Disorders and Stroke (NINDS) to advance a gene therapy development program for Spinal Muscular Atrophy (SMA).
In May 2012, Families of SMA (FSMA) announced the award of up to $750,000 to Dr. Kaspar. This ongoing award supports the preclinical development of a Central Nervous System (CNS)-delivered gene therapy for SMA. Direct CNS delivery likely allows for less virus to be used, which significantly increases the likelihood that older and larger SMA patients can be treated with gene therapy. With the funding from FSMA, Dr. Kaspar’s team initiated studies to jumpstart the research prior to obtaining government and later commercial involvement. This cooperative award from the NINDS will now support advancing the program to the point of human clinical trials. The program will be evaluated using quantitative go/no-go milestones, determined by Nationwide Children’s and NINDS.
SMA is an often-fatal genetic disorder resulting from the loss of both copies of the Survival Motor Neuron (SMN1) gene. This causes a chronic deficiency in the production of the SMN protein, which is essential to the proper functioning of the motor neurons in the spinal cord to the control of muscles in the limbs, neck and chest. SMA is typically marked by the deterioration of the muscles that control crawling, walking, swallowing or breathing. There are no approved therapies for the treatment of SMA. Approximately 1 in 6,000 babies born is affected. One in 40 people, or approximately 8 million in the United States, are genetic carriers of the disease.
Gene therapy is an approach to treating diseases by replacing faulty genes. In the case of SMA, the most direct approach for a gene therapy is to replace the mutated SMN1 gene. In the past, the challenge with gene therapy for SMA has been to find a way to deliver the genetic material efficiently to motor neurons. In recent years, Dr. Kaspar’s group was the first to demonstrate Adeno-Associated Virus 9 (AAV9) targeted motor neurons effectively. Administration of AAV9-SMN into one day-old SMA mice resulted in increased SMN protein levels in motor neurons, correction of synaptic function, and a significant extension of life span.
"At Families of SMA we are extremely pleased that our initial investment at an early stage of this program has provided the preliminary data to leverage larger funding from the NIH. We feel this grant award is positive validation of the Families of SMA research funding and partnering strategy, as well as for this approach for gene therapy in SMA,” said Jill Jarecki PhD, Research Director at Families of SMA. “The Families of SMA funding strategy for preclinical drug development is to invest seed funds to begin early-stage programs for SMA. As programs advance, we look for funding to transition from non-profit to government and commercial sources.”
“My research team at Nationwide Children’s Hospital is excited to advance this promising cerebrospinal fluid delivery approach of AAV9-SMN to the clinic for SMA patients and we are extremely grateful to FSMA and NINDS for the support of this important work,” said Dr. Kaspar, also a faculty member at The Ohio State University College of Medicine. “We stand committed to bring SMA experimental therapeutics to the clinic in the most rapid and safe manner.”
“Development of therapies requires collaboration of academics, advocacy, industry, and government—no single party has the resources to do this alone. The collaboration between Dr. Brian Kaspar, Families of SMA, and the NIH is an exciting model in leveraging resources and expertise in the hope of accelerating therapy development for SMA,” said Dr. John Porter, PhD, Program Director at the National Institute of Neurological Disorders and Stroke.
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