July 30, 2026 —
The TSC Alliance announced completion of a preclinical pilot study evaluating an AAV gene therapy approach for TSC1, conducted in collaboration with Apertura Gene Therapy.
The partners plan to continue preclinical evaluation of gene therapy programs for both TSC1 and TSC2, the two genes associated with tuberous sclerosis complex, or TSC. The investigational approaches use Apertura’s TfR1 CapX™, an intravenously delivered AAV capsid designed to engage human transferrin receptor 1 and support delivery across the blood-brain barrier in preclinical models.
TfR1 CapX is intended to enable broad distribution to the brain and other organs, which is particularly relevant for TSC, a multisystem genetic disease affecting the brain, heart, kidneys, skin, eyes, and lungs.
TSC causes non-cancerous tumors to grow in multiple organs and can impair organ function throughout life. Neurological involvement is especially common: roughly 85% of individuals with TSC experience seizures, and about two-thirds of those patients have refractory epilepsy.
The TSC Alliance said initial findings from the TSC1 preclinical pilot study support further testing to evaluate the approach and determine its potential for advancement toward clinical trials.
The organization has committed to raise $1.76 million over the next 18 months to support gene therapy studies demonstrating effectiveness in both TSC1 and TSC2. If successful, the TSC Alliance plans to begin a subsequent fundraising phase to support IND-enabling studies and move the program closer to clinical development.
The collaboration reflects a patient-advocacy-driven model for advancing rare disease gene therapy, in which nonprofit organizations help coordinate funding, translational research, and industry partnerships to address conditions with high unmet need.
Apertura said the partnership aligns with its commitment to patient-centered drug development and to advancing next-generation AAV capsids for genetic medicines.
The TSC Alliance will also host a session on the pathway for gene therapy research in TSC at the 2026 TSC World Conference in Aurora, Colorado.
If further preclinical studies are successful, the TSC1 and TSC2 programs could represent an important step toward systemic, BBB-crossing AAV gene therapy approaches for the neurological and multisystem manifestations of tuberous sclerosis complex.
