例如:"lncRNA", "apoptosis", "WRKY"

Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial.

Hum Gene Ther Clin Dev. 2018 Sep;29(3):121-131. doi:10.1089/humc.2018.088
Nadine A Kahle 1 , Tobias Peters 1 , Ditta Zobor 1 , Laura Kuehlewein 1 , Susanne Kohl 1 , Ahmad Zhour 1 , Annette Werner 1 , Immanuel P Seitz 1 , Vithiyanjali Sothilingam 1 , Stylianos Michalakis 2 , Martin Biel 2 , Marius Ueffing 1 , Eberhart Zrenner 1 , Karl U Bartz-Schmidt 1 , M Dominik Fischer 1 , Barbara J C Wilhelm 3
Nadine A Kahle 1 , Tobias Peters 1 , Ditta Zobor 1 , Laura Kuehlewein 1 , Susanne Kohl 1 , Ahmad Zhour 1 , Annette Werner 1 , Immanuel P Seitz 1 , Vithiyanjali Sothilingam 1 , Stylianos Michalakis 2 , Martin Biel 2 , Marius Ueffing 1 , Eberhart Zrenner 1 , Karl U Bartz-Schmidt 1 , M Dominik Fischer 1 , Barbara J C Wilhelm 3
+ et al

[No authors listed]

Author information
  • 1 1 University Hospital Tuebingen , Centre for Ophthalmology, Tuebingen, Germany .
  • 2 2 Center for Integrated Protein Science Munich CiPSM at the Department of Pharmacy-Center for Drug Research, Ludwig-Maximilians-Universität München , Munich, Germany .
  • 3 3 STZ eyetrial at the Centre for Ophthalmology , Tuebingen, Germany .

摘要


Achromatopsia is an autosomal recessively inherited congenital defect characterized by a lack of cone photoreceptor function, leading to severely impaired vision. In this clinical study, achromatopsia patients were treated with a single subretinal injection of rAAV.hCNGA3 to restore cone function. The focus of this trial was on the safety of the treatment. After surgery, patients were monitored in eight extensive visits during the first year, followed by a 4-year follow-up period with annual visits. For essential complementation of the standard ophthalmological and systemic examinations, disease-specific methods were developed to assess the safety, efficacy, and patient-reported outcomes in this trial.

KEYWORDS: AAV8, CNGA3, eye, gene therapy, subretinal injection