Advancing Treatments For Pediatric Patients With Rare Diseases

Cell and gene therapy development has accelerated over the past decade, offering promising treatment options for rare pediatric diseases, many of which are monogenic and lack effective therapies. With advancements in technology, several gene and cell therapies have been approved globally, particularly in oncology, neurology, and ophthalmology. AAV-based gene therapies have shown significant potential, particularly in conditions like hemophilia, where gene therapy can address single-gene defects and improve clinical outcomes.

However, challenges remain, including small patient populations, geographic dispersion, complex trial logistics, and long-term follow-up requirements. Pediatric trials present unique hurdles, such as first-in-human studies, vector immunity concerns, and intensive treatment protocols. Despite these obstacles, gene and cell therapies continue to expand beyond rare diseases into broader indications, marking a transformative era in medicine.