Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
| Autor: | M. Dominik Fischer, Alexandra Davies, Edmond Luo, Cristina Martinez-Fernandez de la Camara, James Aylward, Anna Paola Salvetti, Byron L. Lam, Jasmina Cehajic-Kapetanovic, Potyra R. Rosa, Aniz Girach, Tuyen Ong, Laura J Wood, Jasleen K Jolly, Brandon J. Lujan, Graeme C.M. Black, Alun R. Barnard, Ninel Z. Gregori, Robert E MacLaren, Paulo E. Stanga, Andrew J. Lotery, Anika Nanda, Kanmin Xue, Janet L. Davis |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Visual acuity Genetic enhancement General Biochemistry Genetics and Molecular Biology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Ophthalmology Retinitis pigmentosa medicine Clinical endpoint Retina business.industry Retinal General Medicine medicine.disease eye diseases Clinical trial 030104 developmental biology medicine.anatomical_structure chemistry 030220 oncology & carcinogenesis medicine.symptom business Microperimetry |
| Popis: | Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patients over up to 6 months of follow-up (https://clinicaltrials.gov/: NCT03116113). The primary outcome of the study was safety, and secondary outcomes included visual acuity, microperimetry and central retinal thickness. Apart from steroid-responsive subretinal inflammation in patients at the higher doses, there were no notable safety concerns after subretinal delivery of an adeno-associated viral vector encoding codon-optimized human RPGR (AAV8-coRPGR), meeting the pre-specified primary endpoint. Visual field improvements beginning at 1 month and maintained to the last point of follow-up were observed in six patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|