— Gene therapy programs developed through the collaboration will use Apertura's TfR1 CapX™, a novel, intravenously delivered AAV capsid —
NEW YORK AND SILVER SPRING, Md., May 5, 2026 /PRNewswire/ -- Apertura Gene Therapy, a biotechnology company developing next-generation AAV capsids for delivering genetic medicines, and the TSC Alliance, an internationally recognized nonprofit that improves quality of life for everyone affected by tuberous sclerosis complex (TSC), today announced a collaboration to advance gene therapy programs designed to treat tuberous sclerosis complex (TSC), a rare genetic disease. Gene therapy programs advanced through the collaboration will use Apertura's TfR1 CapX™, a novel, intravenously delivered AAV capsid designed to target human transferrin receptor 1 (hTfR1), cross the blood-brain barrier, and enable broad distribution to the brain and spinal cord.
TSC is a rare genetic disease that affects people at all stages of life. TSC causes non-cancerous tumors to grow in different organs and can impair their function, primarily the brain, heart, kidneys, skin, eyes, and lungs. Roughly 85% of individuals with TSC experience seizures, and two thirds of those individuals will have refractory epilepsy, highlighting the need for improved treatments to address the neurological impact of TSC.
"Gene therapy offers the clearest path to the treatment of TSC by providing a functional copy of either TSC1 or TSC2," said Dean Aguiar, Ph.D., TSC Alliance Executive Vice President, Translational Research. "Apertura's TfR1 CapX delivery vehicle offers hope that we can deliver TSC1 or TSC2 to diverse cell types. Broad distribution, particularly in the brain, will be critical to the effectiveness of the treatment."
Although TSC can affect multiple organ systems, its neurological consequences — including treatment-resistant epilepsy, neuropsychiatric disorders, and cognitive impairment — represent the greatest burden for patients and families, and the area of greatest unmet need. TfR1 CapX's ability to target the central nervous system positions it uniquely to address this dimension of the disease.
"At a time when traditional sources of funding for rare disease research are limited, collaborations between patient advocacy groups and industry are extremely important to help advance important preclinical research," said Christopher Davis, Ph.D., Director, Nonclinical and Translational Research, Apertura Gene Therapy. "We are honored to work with the TSC Alliance in our efforts to develop gene therapies to treat TSC and are hopeful about the benefits this research may provide for patients."
The collaboration is aligned with the mission of the TSC Alliance's Preclinical Consortium, which fills a critical research gap for standardized, rigorous testing of potential new TSC therapies prior to clinical trials. The Preclinical Consortium provides its industry and academic members with access to reproducible preclinical models and outcome measures, helping to reduce risk during this critical stage in drug development. The Consortium's goal is to advance programs with compelling effectiveness and safety profiles to clinical trials.
"Over the last two decades the TSC Alliance has invested in and built research resources to accelerate drug development in TSC," said Kari Luther Rosbeck, TSC Alliance President & CEO. "These resources, like our Preclinical Consortium, combined with our partnership with Apertura, allow us to meaningfully explore gene replacement therapy as a novel treatment avenue, fulfilling one of the desired outcomes of the TSC community. We are especially excited to make this announcement during May, TSC Awareness Month."
About the TSC Alliance
The TSC Alliance is an internationally recognized nonprofit that improves quality of life for everyone affected by tuberous sclerosis complex by catalyzing new treatments, driving research toward a cure and expanding access to lifelong support. For more information, visit tscalliance.org.
About TfR1 CapX™
TfR1 CapX™ is a leading IV-administered, BBB-crossing capsid. Multiple for-profit and non-profit organizations have validated and licensed TfR1 CapX, and other groups are in discussions to license the technology. Clinical readiness has been supported by several preclinical development programs, including regulatory engagement and manufacturing by contract development and manufacturing organizations (CDMOs). TfR1 CapX is a proprietary, second-generation capsid that demonstrates superior CNS delivery compared to Apertura's first-generation capsid, BI-hTFR1. Research on the first-generation BI-hTFR1 capsid was published in Science.
About Apertura Gene Therapy
Apertura Gene Therapy develops genetic medicines and next-generation AAV capsids that engage human-relevant receptors, aiming to enable more effective and selective gene delivery. The company's lead capsid, TfR1 CapX™, leverages human transferrin receptor 1 to enable intravenous delivery to the brain and spinal cord. This established transport mechanism has a strong clinical track record in pediatric and geriatric populations, expanding its potential to treat serious neurological and genetic diseases. Apertura has licensed its next-generation capsids to multiple partners, with several programs expected to enter clinical trials over the next 12 months. Founded in 2021 on technology from the Broad Institute and supported by Deerfield Management, Apertura Gene Therapy is headquartered in New York City. Learn more at aperturagtx.com and follow us on LinkedIn.
Contact
For the TSC Alliance
Dan Klein
Senior Director, Communications
(301) 562-9890
[email protected]
For Apertura Gene Therapy
[email protected]
SOURCE Apertura Gene Therapy
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