GC Pharma said Tuesday that it has signed an agreement with its U.S. partner Speragen to co-develop treatment for Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a rare intractable disease.

SSADHD is caused by enzyme deficiency caused by defective genes that show a recessive pattern of inheritance. It is a neurodegenerative disorder found in one in a million babies when they are about one year old. Major symptoms include epilepsy, physical and mental developmental delays. There is no treatment for the disease, and anti-seizure medications are prescribed to relieve seizures.

The two companies aim to develop an enzyme replacement therapy as the first-in-class drug by making the most of the SSADH protein.

Under the agreement, GC Pharma will be given the patent rights for plasmid for SSADHD protein creation from its U.S. partner. Speragen secured monopolized right for the original patent in Washington State University in 2019.

Speragen will be responsible for patient-focused drug development initiative (PFDDI) procedures with the FDA and securing new patients through infant screening in the co-development process. Based on its enzyme therapy techniques verified through Hunterase, GC Pharma will proceed with its research on formulation development to the clinical biomarker.

Beginning with a preclinical study this year, it plans to enter phase 1-2 trials in the second half of 2023.

“Through close cooperation, we will strengthen the pipeline for rare disease therapy that will help patients suffering from it,” GC Pharma CEO Huh Eun-chul said.”