JHU Ref #: C18504
Value Proposition
· Targets direct genetic cause of NF1 rather than only symptoms.
· Improves therapeutic options for NF1 patients.
· AAV vector is one of the safest viral vectors for gene therapy.
· Market for NF1 gene therapies is quite open.
Unmet Need
Neurofibromatosis type 1 (NF1) affects approximately 1 in 2,500 individuals, leading to high rates of benign and malignant tumor development in any tissues/organs. A hallmark of the genetic disorder is the development of plexiform neurofibromas which are benign tumors of the peripheral nerves that can lead to disfigurement or neurologic dysfunction; however, many NF1 patients develop additional neoplasms other than neurofibromas. While there are various treatments available to NF1 patients including MEK inhibitors such as Selumetinib, there is currently no available therapy that treats the underlying genetic cause, failing to prevent future morbidities. Therefore, there is a strong need for gene therapy options to be developed to address the underlying genetic cause of NF1 that is responsible for increased tumor formation.
Technology Description
Researchers at Johns Hopkins have developed a targeted gene therapy for NF1 which is currently the only available gene therapeutic in development. This new viral vector demonstrates significant suppression of tumor growth, induction of apoptosis, and restoration of Schwann cell differentiation. This gene therapy may serve as a novel therapeutic agent for the direct treatment of Neurofibromatosis Type 1, rather than only palliatively treating symptoms of the disease.
Stage of Development
This technology is currently in the preclinical stage of development, with in vitro and in vivo models of its efficacy currently showing positive results.
Data Availability
Data available upon request.
Publications:
- Bai, Ren-Yuan, et al. "Development of an adeno-associated virus vector for gene replacement therapy of NF1-related tumors." Nature communications 16.1 (2025): 8594.
