Apertura Gene Therapy Aids Broad Institute in Developing Prion Disease Gene Therapy with Engineered AAV for CNS Delivery

Apertura Gene Therapy, a biotechnology firm specializing in cutting-edge gene therapy solutions, has announced its support for a collaborative initiative involving the Broad Institute of MIT and Harvard and the Whitehead Institute. The joint effort seeks to develop a groundbreaking gene therapy treatment for prion disease, a rare and fatal neurodegenerative disorder caused by misfolded proteins. The project is spearheaded by the Vallabh-Minikel lab at the Broad Institute, which is dedicated to uncovering a cure for prion disease. This innovative approach utilizes technologies developed at both the Broad and Whitehead Institutes, including the CHARM platform and the TfR1 capsid.

The CHARM platform, which stands for Coupled Histone tail for Autoinhibition Release of Methyltransferase, was developed in Dr. Jonathan Weismann's lab. It aims to target and silence the gene responsible for producing the disease-causing protein, addressing the root cause of prion disease. The therapeutic payload will be delivered using Apertura's TfR1 capsid, an engineered adeno-associated virus (AAV) developed in Dr. Ben Deverman's lab. This capsid binds to the human Transferrin Receptor 1 (TfR1), facilitating efficient crossing of the blood-brain barrier and targeting the central nervous system (CNS) via intravenous administration.

Dr. Sonia Vallabh, a co-leader of the prion disease research group at the Broad, expressed enthusiasm about the progress of this innovative therapy. She noted that the collaboration between Apertura, the Broad Institute, and the Whitehead Institute marks a significant step forward in addressing the unmet needs of patients suffering from neurodegenerative disorders.

The engineered TfR1 capsid, a result of the combined efforts of Dr. Deverman's team and Apertura Gene Therapy, has shown promise in crossing the blood-brain barrier. This breakthrough allows for targeted delivery of therapeutic agents to the CNS, which is crucial for tackling diseases like prion disease. Apertura has shared its preclinical development data and regulatory expertise with the Broad Institute, establishing a roadmap for the rapid advancement of this gene therapy to clinical trials.

Dr. Ben Deverman highlighted the potential of the engineered TfR1-AAV capsid as a more effective vehicle for delivering genetic medicines throughout the CNS. He expressed gratitude to Apertura for providing guidance and access to their data, which has been instrumental in shaping their preclinical strategy.

Dr. Diego Garzón, Apertura's Vice President of Corporate Development, emphasized the potential of the TfR1 capsid to revolutionize treatment for CNS diseases. He stated that Apertura is committed to collaborating with various organizations, both for-profit and non-profit, to explore the capsid's applications in addressing rare and ultra-rare diseases.

This gene therapy project exemplifies the power of scientific innovation and strategic collaboration in tackling some of the most challenging diseases. By combining Apertura's gene therapy expertise with the Broad Institute's pioneering research, the partnership strives to deliver transformative treatments for patients affected by prion disease.