Table 1.
Update of clinical trials of gene therapies in inherited retinal dystrophies.
| Gene Target | Phase | Enrolled # | Start Date | Est. End Date | Drug/Vector | Sponsor | Trial Number | Ref. |
|---|---|---|---|---|---|---|---|---|
| Leber Congenital Amaurosis | ||||||||
| RPE65 | I/II | 12 | Jan-2007 | Dec-2014 | tgAAG76 (rAAV2/2.hRPE65p.hRPE65) |
University College London | NCT00643747 | [5] |
| I | 15 | Jul-2007 | Jun-2026 | rAAV2-CBSB-hRPE65 | University of Pennsylvania | NCT00481546 | [6] | |
| I | 12 | Sep-2007 | Mar-2018 | voretigene neparvovec-rzyl (AAV2-hRPE65v2) |
Spark Therapeutics | NCT00516477 | [7] | |
| I/II | 12 | Nov-2010 | Nov-2026 | NCT00999609 | [8] | |||
| III | 31 | Oct-2012 | Jul-2029 | NCT01208389 | ||||
| I/II | 12 | Jun-2009 | Sep-2017 | rAAV2-CBSB-hRPE65 | Applied Genetic Technologies Corp | NCT00749957 | [9] | |
| I | 3 | Feb-2009 | Jan-2017 | rAAV2-hRPE65 | Hadassah Medical Organization | NCT00821340 | ||
| I/II | 9 | Sep-2011 | Aug-2014 | rAAV-2/4.hRPE65 | Nantes University Hospital | NCT01496040 | [10] | |
| I/II | 15 | Apr-2016 | Dec-2018 | AAV2/5-OPTIRPE65 | MeiraGTx UK II Ltd. | NCT02781480 | [11] | |
| I/II | 27 | Nov-2016 | Apr-2023 | NCT02946879 | ||||
| CEP290 p.Cys998X | I/II | 11 | Oct-2017 | Oct-2019 | QR-110 (Antisense oligonucleotides) |
ProQR Therapeutics | NCT03140969 | |
| I/II | 11 | May-2019 | Mar-2021 | NCT03913130 | [12] | |||
| II/III | 36 | Apr-2019 | Dec-2021 | NCT03913143 | ||||
| CEP290 Intron 26 (IVS26) | I/II | 18 | Sep-2019 | Mar-2024 | EDIT-101 (CRISPR-Cas9) |
Editas Medicine, Inc. | NCT03872479 | |
| Advanced Retinitis Pigmentosa | ||||||||
| ChR2 | I/II | 14 | Dec-2015 | Apr-2035 | RST-001 | Allergan | NCT02556736 | |
| Retinitis Pigmentosa (RP) | ||||||||
| PDE6B | I/II | 15 | Nov-2017 | Sep-2024 | AAV2/5-hPDE6B | Horama S.A. | NCT03328130 | |
| RLBP1 | I/II | 21 | Aug-2018 | Jul-2026 | CPK850 | Novartis Pharmaceuticals | NCT03374657 | |
| USH2A | I/II | 18 | Mar-2019 | Jun-2022 | QR-421a | ProQR Therapeutics | NCT03780257 | |
| PDE6A | I/II | 9 | Sep-2019 | Dec-2025 | rAAV.hPDE6A | STZ eyetrial | NCT04611503 | |
| Autosomal Dominant Retinitis Pigmentosa | ||||||||
| RHO | I/II | 35 | Oct-2019 | 7-Oct-2021 | QR-1123 | ProQR Therapeutics | NCT04123626 | |
| X-linked Retinitis Pigmentosa (XLRP) | ||||||||
| RPGR | I/II | 37 | Jun-2020 | Sep-2023 | 4D-125 | 4D Molecular Therapeutics | NCT04517149 | |
| I/II | 50 | Mar-2017 | Nov-2020 | BIIB112 | NightstaRx Ltd., a Biogen Company | NCT03116113 | [13] | |
| I/II | 46 | 1Jul-2017 | Nov-2020 | AAV2/5-RPGR | MeiraGTx UK II Ltd. | NCT03252847 | ||
| III | 48 | Jan-2021 | Jul-2022 | AAV5-RPRG | MeiraGTx UK II Ltd. | NCT04671433 | ||
| I/II | 42 | 1Apr-2018 | Aug-2026 | AGTC-501 (rAAV2tYF-GRK1-RPGR) |
Applied Genetic Technologies Corp | NCT03316560 | ||
| Choroideremia | ||||||||
| REP1 | I/II | 14 | Oct-2011 | Oct-2017 | rAAV2.REP1 | University of Oxford | NCT01461213 | [14] |
| I/II | 6 | Apr-2015 | Sep-2025 | rAAV2.REP1 | University of Alberta | NCT02077361 | ||
| II | 6 | Sep-2015 | Feb-2018 | rAAV2.REP1 | University of Miami | NCT02553135 | [15] | |
| II | 6 | Jan-2016 | Feb-2018 | rAAV2.REP1 | STZ eyetrial | NCT02671539 | [16] | |
| II | 30 | Aug-2016 | Aug-2021 | AAV2.REP1 | University of Oxford | NCT02407678 | ||
| III | 170 | Dec-2017 | Dec-2020 | AAV2-REP1 | NightstaRx Ltd., a Biogen Company | NCT03496012 | [17] | |
| II | 60 | Nov-2018 | Feb-2022 | BIIB111(AAV2-REP1) | NightstaRx Ltd., a Biogen Company | NCT03507686 | ||
| CHM | I/II | 15 | Jan-2015 | Oct-2022 | AAV2-hCHM | Spark Therapeutics | NCT02341807 | |
| I | 15 | Jul-2020 | May-2023 | 4D-100 | 4D Molecular Therapeutics | NCT04483440 | ||
| X-linked juvenile retinoschisis | ||||||||
| RS1 | I/II | 24 | Feb-2015 | Jul-2023 | AAV8-scRS/IRBPhRS | National Eye Institute (NEI) | NCT02317887 | |
| I/II | 27 | May-2015 | Oct-2023 | rAAV2tYF-CB-hRS1 | Applied Genetic Technologies Corp | NCT02416622 | ||
RPE65: Retinal pigmented epithelium-specific protein with molecular mass 65 kDa; CEP290: Centrosomal Protein 290; ChR2: Channelrhodopsin-2; PDE6B: Phosphodiesterase 6B; RLBP1: Retinaldehyde-binding protein 1; USH2A: Usherin; PDE6A: Phosphodiesterase 6A; RHO: Rhodopsin; RPGR: Retinitis pigmentosa GTPase regulator; REP1: Rab escort protein 1; CHM: Choroideremia; RS1: Retinoschisin.