Grant: Op. Grant :Bringing Rare Disease Gene Therapies to Clinical Trial Readiness- LOI

Respiratory disorders, especially genetic ones, pose immense challenges in modern medicine, often leading to life-threatening conditions with limited treatment options. SP-B deficiency is one such rare genetic lung disease, affecting infants and leading to lethal respiratory distress. Gene therapy offers a promising solution by addressing the root cause of SP-B deficiency. Our research proposal is centered on harnessing a novel AAV6.2FF vector to develop an effective gene therapy for SP-B deficiency by delivering a functional copy of the SFTBP gene using this vector, restoring surfactant production and improving survival rates. Our comprehensive research plan consists of seven interconnected objectives leading to a clinical trial: Objective 1: Scaling up vector production and purification. Objective 2: Conducting toxicology studies to evaluate the safety profile of the AAV6.2FF vector. Objective 3: Developing a Good Manufacturing Practice-compliant process for vector production. Objective 4: Preparing for regulatory meetings to ensure compliance before clinical trials. Objective 5: Building capacity through researcher training, patient education, and collaboration with advocacy groups and healthcare providers. Objective 6: Mobilizing knowledge and contributing to the development of policies for gene therapy and rare disease treatment. Objective 7: Exploring the adaptability of the AAV6.2FF vector technology to other genetic disorders. The significance of our research lies in its potential to revolutionize the treatment of SP-B deficiency and serve as a model for other genetic disorders. Ultimately, our goal is to accelerate the development and translation of gene therapies for rare diseases, benefiting not only those with SP-B deficiency but also patients with a wide range of genetic disorders. By fostering collaborations, sharing knowledge, and engaging with regulatory bodies, we aim to bring these promising therapies from the laboratory bench to the bedside.