Basic Information

Gene symbol CEP290 Synonyms 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16 Type of gene protein-coding
Gene perturbation-related omics dataset PertOrg
Description centrosomal protein 290

GTO ID GTC0371
Trial ID NCT03140969
Disease Leber Congenital Amaurosis
Altered gene CEP290
Therapeutic/Target gene Target gene
TherapyASO
Treatment Sepofarsen|QR-110
PhasePhase1|Phase2
Recruitment statusCompleted
TitleAn Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety and Tolerability of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
Year2017
CountryBelgium|United States
Company sponsorProQR Therapeutics
Other ID(s)PQ-110-001|2017-000813-22
Vector information
VectorNo vector was used

Clinical Result

Cohort1: dose level 1
Administration route intravitreal injection
Dosage 160 μg one time, followe 80 μg three times
Pts 6
Age Child, Adult, Older_Adult
Adverse reactions 2/6(Eye disorders)
References PMID: 30559420 | 35379979
Cohort2: dose level 2
Administration route intravitreal injection
Dosage 320 μg one time, followe 160 μg three times
Pts 5
Age Child, Adult, Older_Adult
Adverse reactions 4/5(Eye disorders)
References PMID: 30559420 | 35379979

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