Gene symbol | CEP290 | Synonyms | 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16 | Type of gene | protein-coding |
Chromosome | 12 | Map location | 12q21.32 | dbXrefs | |
Gene perturbation-related omics dataset | PertOrg | ||||
Description | centrosomal protein 290 |
GTO ID | GTC0683 |
Trial ID | 2020-000535-45 |
Disease | Leber Congenital Amaurosis |
Altered gene | CEP290 |
Therapeutic/Target gene | Target gene |
Therapy | ASO |
Treatment | Sepofarsen|QR-110 |
Phase | Phase2|Phase3 |
Recruitment status | Completed |
Title | An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age with Leber Congenital Amaurosis Type 10 (LCA10) due to the c.2991 +1655A>G (p.Cys998X) mutation |
Year | 2020 |
Country | Belgium |
Company sponsor | ProQR Therapeutics IV B.V. |
Vector information | |||
|
Cohort1: dose level 1 | |||||||
|
|||||||
Cohort2: dose level 2 | |||||||
|