Gene Therapy Research Awarded Additional $445,000 Cure SMA Grant

Nonprofit organization Cure SMA has awarded a $445,000 grant to fund research on a gene therapy for the treatment of spinal muscular atrophy (SMA) conducted at Nationwide Children’s Hospital. The additional funding was granted to the principal investigator of the Center for Gene Therapy, Brian Kaspar, PhD, as announced by the organization in a recent press release.

The grant was awarded for the promising SMA research advances being developed by Kaspar’s team. Cure SMA’s newest award bringing the total lifetime funding for the program to $845,000, $745,000 of which has been appropriated to the team’s blood-cerebrospinal fluid (CSF) program and $100,000 for their systemic gene therapy program.

SMA is the leading cause of death related to genetic diseases in children, and it is caused by a mutation in the survival motor neuron 1 gene (SMN1), which does not allow the body to produce enough survival motor neuron (SMN) protein.

Kaspar and his team are developing a novel gene therapy that is expected to improve the levels of SMN in the body through a viral vector that provides the SMN1 gene to the affected cells. The team led by Kaspar found an adeno-associated virus serotype 9 (AAV9) with unique capacities for crossing both the blood brain barrier (BBB) and through the blood-cerebrospinal fluid (CSF), which resulted in the study of two different approaches to treat SMA.

“We are excited about our progress to advance a CSF route of delivery to human clinical trials for SMA and we are grateful for the continued support from Cure SMA,” said Kaspar. “We were able to demonstrate remarkable survival rates with normal motor functions in our SMA animal models, and found significant targeting of motor neurons throughout the brain and spinal cord.”

The investigators focused on systemic delivery, an injection into the vein, which is currently being studied in clinical trials, as well as on the direct delivery of the gene therapy into the CSF: CSF-delivered gene therapy process. The technology from both methods was licensed to the biotechnology company AveXis.

The new grant will be used to support the expenses associated with the U.S. Food and Drug Administration (FDA) regulatory filings to initiate a clinical trial. Cure SMA has been funding gene therapy studies conducted by Kaspar since 2010. Using the data generated with Cure SMA funding on the CSF-delivery of the drug, Dr. Kaspar and his team were able to secure a $4 million grant from NINDS in 2013, for the development of a delivery approach for human clinical trials in SMA.

“We are excited about the milestones that have been reached thus far with Cure SMA funding, and look forward to seeing progression of the gene therapeutic program with our new round of funding to Dr. Kaspar,” stated the research director at Cure SMA, Jill Jarecki, PhD. “There is great potential for CSF-delivered gene therapy to be further advanced for patients with SMA.”

“A critical long-term goal of the Cure SMA drug discovery approach is to help identify treatments for SMA patients of every age, disease type, and stage. One of the most compelling aspects of CSF-delivered gene therapy is the promise it shows for reducing the amount of drug required for larger and older patients. This could eventually make the treatment accessible to a wider population,” added Jarecki.