NEWS

Drs. Lee & Rotenberg were awarded approximately one million dollars for the next three years to fund their continued work on Gene Therapy. The funding will be coming through an Innovation Grants to Nurture Initial Translational Efforts (IGNITE) from the National Institutes of Neurological Disorders and Stroke (NINDS).

Having documented their success with Gene Therapy on the SSADHD mouse model they will work with Guangping Gao, PhD, who is a Professor in Biomedical Research, (UMass Chan Medical School).  Dr. Gao’s specific expertise is with the adeno-associated virus (AAV), a versatile viral vector technology that can be engineered for very specific functionality in gene therapy applications. Dr. Gao has had success using this technology to treat other disorders.

The goal for this grant is two-fold:

1) Provision of molecular insights into whether AAV is a viable clinical candidate for SSADHD gene therapy. The proposed study provides necessary insights into whether this novel AAV construct is sufficient for phenotypic reversal in patient-derived induced pluripotent stem cells (iPSC), and whether this gene expression cassette is effective in various cell types including excitatory and inhibitory neurons.

2) Establishment of practical AAV dosage for a therapeutic SSADH gene restoration therapy. The proposed study provides necessary insights into minimal threshold for systemic delivery of translatable AAV serotype leading to brain-wide coverage and associated phenotypic reversal in SSADH-deficient mice, advancing future translational and clinical development of SSADH gene therapy.

This grant will help solidify the safety and proof-of-concept for SSADHD gene therapy work that has been accomplished with the SSADHD mice, taking this treatment one step closer to a human trial.

We are grateful to Drs. Lee and Rotenberg for their persistent work on the mouse model to consistently report successful results, laying the ground work for getting this grant from the NINDS and teaming up with Dr. Gao to bring this to the human population.

Additionally, we are thankful that we have the iPSC lines established, stable and ready to be rolled into this project. Thanks also to the patients and parents who donated biopsies to the biorepository, Dr. Afshar-Saber and the others who carried this research forward along with Mustafa Sahin, MD, PhD and Phil Pearl, MD who kept this work a priority within the Sahin Lab at the Translational Neuroscience Center at Boston Children’s Hospital.