Families of SMA and Nationwide Childrens Hospital Announce Multi-Million Dollar Award from NINDS to Advance CNS-Directed Gene Therapy for Spinal Muscular Atrophy

March 13, 2013

Nationwide Children’s Hospital 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).

This three-year multi-million dollar cooperative agreement to Brian Kaspar, PhD, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital in the amount of $3,752,462, funds pre-clinical drug development up to the filing of an Investigational New Drug Application (IND) to the Food and Drug Administration (FDA). This agreement represents an innovative collaboration between Government, Advocacy and Academic groups to advance a promising new therapy for 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.

About Families of SMA
Families of SMA is the world’s leader focused on funding SMA research to develop a treatment and cure for the disease. The successful results and progress that the organization has delivered, from basic research to drug discovery to clinical trials, provide real hope for families and patients impacted by the disease. The charity has invested over $55 million in research and has been involved in funding half of all the ongoing novel drug programs for SMA. Families of SMA is a nonprofit 501(c)3 organization, with 31 Chapters and 90,000 members and supporters throughout the United States. The organization’s work has produced major discoveries, including identification of the underlying cause and a back-up gene for the disease, which provides a clearly defined target for disease altering therapies. The organization is also dedicated to supporting SMA families through networking, information and services and to improving care for all SMA patients


About Nationwide Children's Hospital

Named to the Top 10 Honor Roll on U.S. News & World Report’s 2019-20 list of “Best Children’s Hospitals,” Nationwide Children’s Hospital is one of America’s largest not-for-profit freestanding pediatric health care systems providing wellness, preventive, diagnostic, treatment and rehabilitative care for infants, children and adolescents, as well as adult patients with congenital disease. Nationwide Children’s has a staff of more than 13,000 providing state-of-the-art pediatric care during more than 1.5 million patient visits annually. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Children’s physicians train the next generation of pediatricians and pediatric specialists. The Abigail Wexner Research Institute at Nationwide Children’s Hospital is one of the Top 10 National Institutes of Health-funded freestanding pediatric research facilities. More information is available at NationwideChildrens.org.