May 06, 2026 —
Apertura Gene Therapy and the TSC Alliance have announced a collaboration to advance gene therapy programs for tuberous sclerosis complex (TSC), a rare genetic disease that can affect multiple organ systems, including the brain, heart, kidneys, skin, eyes, and lungs. Programs developed 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 caused by mutations in TSC1 or TSC2, and its neurological manifestations represent one of the greatest burdens for patients and families. According to the announcement, approximately 85% of individuals with TSC experience seizures, and about two-thirds of those with seizures develop refractory epilepsy, underscoring the need for therapies that can more directly address the neurological impact of the disease.
The collaboration is designed to explore gene replacement therapy as a potential treatment avenue for TSC by delivering a functional copy of either TSC1 or TSC2. Because broad brain distribution is expected to be critical for therapeutic effect, Apertura’s TfR1 CapX platform may provide an important delivery advantage for CNS-targeted AAV gene therapy. The capsid’s intravenous delivery route and ability to engage hTfR1 are intended to support broader CNS access than conventional AAV delivery approaches.
The program will also leverage the TSC Alliance’s Preclinical Consortium, which provides standardized preclinical models and outcome measures to support rigorous testing of potential TSC therapies before clinical development. By combining Apertura’s next-generation AAV capsid technology with the TSC Alliance’s disease-focused research infrastructure, the collaboration aims to reduce translational risk and identify programs with compelling safety and efficacy profiles for future clinical trials.
This collaboration highlights a broader trend in the gene therapy field: next-generation AAV capsids are increasingly being designed not only for payload delivery, but also for tissue specificity, blood-brain barrier crossing, and scalable systemic administration. For diseases such as TSC, where neurological symptoms drive major clinical burden, improved CNS delivery may be essential to realizing the full therapeutic potential of gene replacement strategies.
