AAV-Mediated GRN Gene Delivery For Therapy Of Frontotemporal Dementia Due To Progranulin Mutations


Market Need

Frontotemporal dementia (FTD) is a highly heritable form of early onset dementia with a prevalence in 20-50 year olds with dementia similar to that of Alzeimer’s disease (15 in 100,000). On average it begins in the sixth decade of life and has poor life expectancy that is on par with Alzheimer’s. It is caused by frontotemporal lobar degeneration (FTLD) or the progressive degeneration in the frontal and temporal lobes of the brain that are responsible for behavior, personality, language, and motor function. Currently, there is no treatment for FTD, only management of the symptoms with behavioral management and drugs such as selective serotonin reuptake inhibitors, antipsychotics, and others, which all carry risks and do not address the cause of the disease. Pathologically, around half of the FTLD cases involve mutations in GRN (progranulin). Over 60 mutations in GRN have been identified that cause FTLD by resulting in haploinsufficiency of progranulin. Thus, there is a need for a treatment for FTD that addresses the cause such as a method to deliver progranulin to the brain.

Technology Overview

The lab of Dr. Beverly Davidson has developed a strategy to deliver progranulin to the brain that comprises adeno-associated virus (AAV) - vector based expression of GRN that can be delivered via injections of the vector into the cerebrospinal fluid. This strategy would allow for cells in the brain to express normal levels of progranulin that can compensate for a haploinsufficiency mutation. Thus far, AAVs have been developed to deliver the progranulin and studies are planned in progranulin deficient mice to establish proof of concept that the delivered progranulin is delivered to the brain in sufficient quantity. This technology could be the first treatment for FTD caused by progranulin deficiency.


•       First treatment available for FTD

•       Targeted therapy addresses the cause of FTD

•       Personalized medicine approach


Stage of Development: In vitro proof of concept

Patent Information: Provisional Patent Pending


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For Information, Contact:
Cassie Tran
Licensing Associate
The Children's Hospital of Philadelphia
Beverly Davidson
Dfne Amado
Alice Chen-Plotkin
Julianne Rieders