Molecular Therapies for Choroideremia
Abstract
:1. Introduction
2. Choroideremia Phenotype
3. Choroideremia Genotype
3.1. Genotype–Phenotype Correlation in Choroideremia
3.2. Molecular Mechanisms of Choroideremia
3.3. Gene Therapy for Choroideremia
4. Should We Treat Female Carriers in the Future?
5. Alternative Therapies
6. Summary
Author Contributions
Funding
Conflicts of Interest
References
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Clinical trial | Intervention | Clinical centre | References |
---|---|---|---|
Phase I/II NCT01461213 Start date: 2011 Completed 2018 | Gene therapy involving subretinal delivery of AAV2-REP1 | University of Oxford, UK | Lancet, 2014 [9] NEJM, 2016 [10] Nat Med, 2018 [11] |
Phase I/II NCT02341807 Start date: 2015 Ongoing | Gene therapy involving subretinal delivery of AAV2-REP1 | Philadelphia, USA Spark Therapeutics | No reports to date |
Phase I/II NCT02077361 Start date: 2015 Completed 2018 | Gene therapy involving subretinal delivery of AAV2-REP1 | University of Alberta, Canada | Am J Ophthalmol, 2018 [12] |
Phase II NCT02553135 Start date: 2015 Completed 2019 | Gene therapy involving subretinal delivery of AAV2-REP1 | University of Miami, USA | Am J Ophthalmol, 2019 [13] |
Phase IINCT02671539 THOR TRIAL Start date: 2016 Completed 2018 | Gene therapy involving subretinal delivery of AAV2-REP1 | University of Tubingen, Germany | Retina, 2018 [14] |
Phase II NCT02407678 REGENERATE TRIAL Start date: 2016 Ongoing | Gene therapy involving subretinal delivery of AAV2-REP1 | University of Oxford and Moorfields Eye Hospital, UK | No reports to date |
Phase II NCT03507686 GEMINI TRIAL Start date: 2017 Ongoing | Gene therapy involving bilateral subretinal delivery of AAV2-REP1 | Nightstar Therapeutics (now Biogen) International, Multi-centre | No reports to date |
Phase III NCT03496012 STAR TRIAL Start date: 2017 Ongoing | Gene therapy involving subretinal delivery of AAV2-REP1 | Nightstar Therapeutics (now Biogen), International, Multi-centre | No reports to date |
Observational NCT03584165 SOLSTICE TRIAL Start date: 2018 Ongoing | Long-term follow up study evaluating the safety and efficacy of AAV2-REP1 used in antecedent interventional choroideremia studies, 100 participants | Nightstar Therapeutics (now Biogen), International, Multi-centre | No reports to date |
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Cehajic Kapetanovic, J.; Barnard, A.R.; MacLaren, R.E. Molecular Therapies for Choroideremia. Genes 2019, 10, 738. https://doi.org/10.3390/genes10100738
Cehajic Kapetanovic J, Barnard AR, MacLaren RE. Molecular Therapies for Choroideremia. Genes. 2019; 10(10):738. https://doi.org/10.3390/genes10100738
Chicago/Turabian StyleCehajic Kapetanovic, Jasmina, Alun R. Barnard, and Robert E. MacLaren. 2019. "Molecular Therapies for Choroideremia" Genes 10, no. 10: 738. https://doi.org/10.3390/genes10100738