RPGRIP1
Retinitis pigmentosa GTPase regulator-interacting protein; photoreceptor connecting cilium
Preklinik Araştırma
OT-004 (Odylia Therapeutics) — AAV gene-augmentation delivering a functional RPGRIP1 copy via the Anc80 capsid. Late-stage preclinical (manufacturing and toxicology), preparing for an IND filing; it holds FDA Orphan Drug and Rare Pediatric Disease designations. No clinical trial is registered yet (as of Aug 2026). The program builds on academic proof-of-concept: AAV-RPGRIP1 replacement preserved photoreceptor structure and function in Rpgrip1-knockout mice — first with a mouse sequence (Pawlyk 2005) and then a human RPGRIP1 sequence (Pawlyk 2010) — and rescued cone function stably for up to 24 months in the RPGRIP1-deficient dog, a large-animal cone-rod dystrophy model (Lhériteau 2014).
Kaynaklı ve atıflı — henüz uzman incelemesinden geçmedi
Buradaki her ifade atıf yapılan birincil bir kaynağa dayanır, ancak bu sayfa henüz bir uzman tarafından resmi olarak incelenmedi.
14q11.2
Otozomal Resesif
~6% LCA vakalarının
Temel Klinik Özellikler
- 1Initial rapid decline followed by stabilization
- 2Preserved macular architecture with outer nuclear layer into adulthood
- 3Natural history and genotype–phenotype correlation characterized in a 228-patient cohort (Beryozkin 2021)
Sources:
- OMIM 613826
- Odylia Therapeutics — OT-004 RPGRIP1 program
- Pawlyk et al., IOVS 2005 — AAV RPGRIP gene replacement rescues photoreceptors (mouse)
- Pawlyk et al., Hum Gene Ther 2010 — human RPGRIP1 sequence slows degeneration (mouse)
- Lhériteau et al., Mol Ther 2014 — successful gene therapy in the RPGRIP1-deficient dog
- Beryozkin et al., Front Cell Dev Biol 2021 — RPGRIP1 natural history in 228 patients