Four infants with Pompe disease received an intravenous injection of GC301, a gene therapy that delivers a codon-optimized gene encoding human acid alpha-glucosidase (GAA) carried by an adeno-associated viral vector serotype 9 (AAV9).
- After 52 weeks of observation, cardiac measurements, such as left ventricular ejection fraction, improved in three of the infants.
- Their Hammersmith Infant Neurological Examination (HINE) scores also improved, and they achieved motor milestones such as sitting, standing, and walking with assistance.
- No anti-GAA antibodies were detected.
- One patient was withdrawn from the study and subsequently died.
- The most common adverse event was respiratory tract infections.
Further studies with larger cohorts and long-term follow-up are needed to assess the safety and durability of the effect of GC301.
