Advancing Lentiviral Gene Therapy for Pompe: From Lab to Fair Access

Project summary

Transforming Pompe Care with Accessible Gene Therapy

The public-private partnership of Erasmus MC and Lenticure is driving the development of an innovative gene therapy for Pompe disease, aiming to replace burdensome enzyme replacement therapy (ERT) with a single treatment. By leveraging our center’s unique, world-renowned expertise and 25 years of comprehensive patient data, we are pioneering a safer, more effective, and affordable solution.

Societal Relevance

Pompe disease affects muscle and brain function, severely limiting patients’ ability to walk, breathe, and participate in daily life. Current treatments require frequent infusions and cost society approximately €500,000 per patient annually. Gene therapy offers a one-time intervention that can treat both muscles and the brain, reducing healthcare costs and improving quality of life. As rare diseases increasingly face market withdrawal by profit-driven companies, this project demonstrates the potential of social enterprises to address unmet needs and create sustainable solutions.

Innovative Approach

We are combining cutting-edge gene therapy with decades of systematically collected data from Pompe patients. This includes advanced biomarkers, innovative outcome measures, a validated brain scoring method and Patient Reported Outcome Measures to ensure robust trial design. Our goal is to develop a treatment that provides significant, lasting benefits for both classic infantile and late-onset Pompe patients, addressing the most urgent medical and societal needs.

Deliverables

The project will deliver a comprehensive clinical trial design, integrating exploratory outcome measures and safety assessments. By early 2027, we aim to submit all required regulatory documents, enabling the launch of a clinical trial that could redefine care for Pompe disease. The expected outcome: a life-changing therapy accessible to all, reducing treatment burden and costs while advancing global healthcare innovation.