Funding outcome

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder and the leading inherited cause of infant mortality, affecting approximately 1 in 6,000 live births. It is marked by progressive muscle weakness and degeneration of motor neurons, resulting in the loss of voluntary movement, feeding difficulties, respiratory failure, and ultimately death in early childhood. Although recent therapeutic advancements have brought hope, current treatment options are limited by several major challenges. These include invasive administration procedures, systemic side effects, high costs, and limited ability to target all the tissues affected by the disease. Since SMA impacts multiple organs, including muscles, heart, lungs, liver, and the central nervous system, there is a critical need for a safe, effective, and body-wide therapeutic approach. My research is focused on developing a next-generation therapy that uses a DNA-like molecule linked to a novel cell-penetrating peptide designed to improve delivery across multiple organs and cross the blood-brain barrier. This molecule can be administered through a simple subcutaneous injection, offering a much less invasive alternative to current treatments. The next phase of my research will explore how this therapy works in the body and identify optimal dosing strategies to maximize both safety and efficacy. By addressing both central and peripheral symptoms, this approach has the potential to provide a more holistic treatment for SMA. Ultimately, this project aims to lay the foundation for future clinical trials and move closer to a treatment that meaningfully improves the lifespan and quality of life for individuals with SMA.