GC Biopharma said its investigational treatment for Sanfilippo Syndrome type A (project name: GC1130A) has received orphan drug designation from the Ministry of Food and Drug Safety (MFDS). It marks the third orphan drug designation for the compound, following designations by the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA).

The Korean orphan drug designation applies to medicines used for diseases affecting 20,000 people or fewer in the country, or to drugs with no appropriate alternative treatment or those demonstrating significantly improved safety and efficacy compared to existing treatments. Designation as an orphan drug grants benefits, including reduced pre-review fees prior to a marketing authorization application and eligibility for conditional approval.

Sanfilippo syndrome is a lysosomal storage disease that occurs in about one in 70,000 live births. Symptoms typically emerge between ages two and five, beginning with delayed language development and developmental stagnation. Over time, patients experience cognitive decline, weakened motor skills, and respiratory problems, posing serious threats to life.

To date, no approved treatment exists for Sanfilippo Syndrome, and only rehabilitative therapies for symptom management are available, resulting in a very high unmet medical need among patients.

GC Biopharma is developing this treatment as an intracerebroventricular (ICV) formulation. This method involves the direct administration of the drug into the ventricles, making it expected to be effective in improving cognitive function in severely affected patient groups. Indeed, nonclinical results for GC1130A published in 2024 demonstrated that the ICV formulation achieved up to 47 times higher drug delivery efficacy compared to intrathecal (IT) administration.

GC1130A is currently undergoing phase 1 clinical trials in the United States, Korea, and Japan. The company aims to rapidly develop this treatment and achieve commercialization within five years.

“We expect the designation as a Korean orphan drug to significantly accelerate its development,” GC Biopharma CEO Heo Eun-cheol said. “GC1130A will become a meaningful alternative to address the unmet medical needs of patients with Sanfilippo Syndrome.”