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1,107 results on '"Bartz-Schmidt, Karl-Ulrich"'

120. Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial

Author

Reichel, Felix Friedrich, primary, Michalakis, Stylianos, additional, Wilhelm, Barbara, additional, Zobor, Ditta, additional, Muehlfriedel, Regine, additional, Kohl, Susanne, additional, Weisschuh, Nicole, additional, Sothilingam, Vithiyanjali, additional, Kuehlewein, Laura, additional, Kahle, Nadine, additional, Seitz, Immanuel, additional, Paquet-Durand, Francois, additional, Tsang, Stephen H, additional, Martus, Peter, additional, Peters, Tobias, additional, Seeliger, Mathias, additional, Bartz-Schmidt, Karl Ulrich, additional, Ueffing, Marius, additional, Zrenner, Eberhard, additional, Biel, Martin, additional, Wissinger, Bernd, additional, and Fischer, Dominik, additional

Published
2021
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130. Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia

Author

Fischer, M. Dominik, Michalakis, Stylianos, Wilhelm, Barbara, Zobor, Ditta, Muehlfriedel, Regine, Kohl, Susanne, Weisschuh, Nicole, Ochakovski, G. Alex, Klein, Reinhild, Schoen, Christian, Sothilingam, Vithiyanjali, Garcia-Garrido, Marina, Kuehlewein, Laura, Kahle, Nadine, Werner, Annette, Dauletbekov, Daniyar, Paquet-Durand, François, Tsang, Stephen, Martus, Peter, Peters, Tobias, Seeliger, Mathias, Bartz-Schmidt, Karl Ulrich, Ueffing, Marius, Zrenner, Eberhart, Biel, Martin, and Wissinger, Bernd

Subjects
Adult, Male, genetic structures, Research, Visual Acuity, food and beverages, Cyclic Nucleotide-Gated Cation Channels, Color Vision Defects, Genetic Therapy, Middle Aged, eye diseases, Retina, Featured, Young Adult, Treatment Outcome, hemic and lymphatic diseases, Electroretinography, Retinal Cone Photoreceptor Cells, Online First, Humans, Female, Comments, Original Investigation, Follow-Up Studies, Retrospective Studies
Abstract

This nonrandomized controlled trial assesses safety and vision outcomes of gene therapy for patients with achromatopsia., Key Points Question What are the safety and vision outcomes associated with gene therapy for achromatopsia? Findings In this nonrandomized controlled trial of 9 patients with confirmed CNGA3-linked achromatopsia, gene therapy applying an adeno-associated viral vector encoding CNGA3, was not associated with substantial safety concerns and was associated with improvements of vision in patients. Meaning This study provides clinical proof of concept for viral vector–mediated gene supplementation therapy of inherited day blindness caused by pathogenic variants in the cone photoreceptor-specific gene CNGA3., Importance Achromatopsia linked to variations in the CNGA3 gene is associated with day blindness, poor visual acuity, photophobia, and involuntary eye movements owing to lack of cone photoreceptor function. No treatment is currently available. Objective To assess safety and vision outcomes of supplemental gene therapy with adeno-associated virus (AAV) encoding CNGA3 (AAV8.CNGA3) in patients with CNGA3-linked achromatopsia. Design, Setting, and Participants This open-label, exploratory nonrandomized controlled trial tested safety and vision outcomes of gene therapy vector AAV8.CNGA3 administered by subretinal injection at a single center. Nine patients (3 per dose group) with a clinical diagnosis of achromatopsia and confirmed biallelic disease-linked variants in CNGA3 were enrolled between November 5, 2015, and September 22, 2016. Data analysis was performed from June 6, 2017, to March 12, 2018. Intervention Patients received a single unilateral injection of 1.0 × 1010, 5.0 × 1010, or 1.0 × 1011 total vector genomes of AAV8.CNGA3 and were followed up for a period of 12 months (November 11, 2015, to October 10, 2017). Main Outcomes and Measures Safety as the primary end point was assessed by clinical examination of ocular inflammation. Systemic safety was assessed by vital signs, routine clinical chemistry testing, and full and differential blood cell counts. Secondary outcomes were change in visual function from baseline in terms of spatial and temporal resolution and chromatic, luminance, and contrast sensitivity throughout a period of 12 months after treatment. Results Nine patients (mean [SD] age, 39.6 [11.9] years; age range, 24-59 years; 8 [89%] male) were included in the study. Baseline visual acuity letter score (approximate Snellen equivalent) ranged from 34 (20/200) to 49 (20/100), whereas baseline contrast sensitivity log scores ranged from 0.1 to 0.9. All 9 patients underwent surgery and subretinal injection of AAV8.CNGA3 without complications. No substantial safety problems were observed during the 12-month follow-up period. Despite the congenital deprivation of cone photoreceptor–mediated vision in achromatopsia, all 9 treated eyes demonstrated some level of improvement in secondary end points regarding cone function, including mean change in visual acuity of 2.9 letters (95% CI, 1.65-4.13; P = .006, 2-sided t test paired samples). Contrast sensitivity improved by a mean of 0.33 log (95% CI, 0.14-0.51 log; P = .003, 2-sided t test paired samples). Conclusions and Relevance Subretinal gene therapy with AAV8.CNGA3 was not associated with substantial safety problems and was associated with cone photoreceptor activation in adult patients, as reflected by visual acuity and contrast sensitivity gains. Trial Registration ClinicalTrials.gov Identifier: NCT02610582

Published
2020

134. Matrix metalloproteinases in human choroidal neovascular membranes excised following verteporfin photodynamic therapy

Author

Tatar, Olcay, Adam, Annemarie, Shinoda, Kei, Eckert, Tillmann, Scharioth, Gabor B., Klein, Micheal, Yoeruek, Efdal, Bartz-Schmidt, Karl Ulrich, and Grisanti, Salvatore

Subjects
Choroid -- Physiological aspects, Neovascularization -- Physiological aspects, Neovascularization -- Causes of, Neovascularization -- Care and treatment, Verteporfin -- Dosage and administration, Photochemotherapy -- Dosage and administration, Macular degeneration -- Care and treatment, Cancer -- Photochemotherapy, Cancer -- Dosage and administration, Health
Published
2007

136. Effect of verteporfin photodynamic therapy on endostatin and angiogenesis in human choroidal neovascular membranes

Author

Tatar, Olcay, Shinoda, Kei, Adam, Annemarie, Eckert, Tillmann, Eckardt, Claus, Lucke, Klaus, Deuter, Christoph, Bartz-Schmidt, Karl Ulrich, and Grisanti, Salvatore

Subjects
Endostatin -- Research, Neovascularization -- Development and progression, Macular degeneration -- Development and progression, Macular degeneration -- Care and treatment, Macular degeneration -- Research, Cancer -- Photochemotherapy, Cancer -- Patient outcomes, Cancer -- Research, Photochemotherapy -- Patient outcomes, Photochemotherapy -- Research, Health
Published
2007

137. Surgical management of a conjunctival nevus with amniotic membrane transplantation

Author

Röck, Tobias, Bösmüller, Hans-Christian, Bartz-Schmidt, Karl Ulrich, and Röck, Daniel

Subjects
conjunctival nevus, ocular surface reconstruction, Case Report, sense organs, amniotic membrane transplantation, skin and connective tissue diseases, eye diseases, reconstructive surgical procedures
Abstract

Purpose Nevi of the conjunctiva are usually benign pigmented tumorous lesions located in the bulbar conjunctiva. In most conjunctival nevus cases, the patient wants the lesion to be removed for cosmetic reasons, but excisional biopsies are best for lesions suspicious for malignancy. This case report illustrates the intraoperative surgical management, histological findings, and the course of healing in a conjunctival nevus patient. Case report A 26-year-old man was referred to our eye hospital with a large bulbar conjunctival nevus of the right eye. Upon examination, there was a large pigmented lesion with numerous small cysts present on the superior bulbar conjunctiva. The conjunctival tumor was resected, and an amniotic membrane transplantation was performed for the bulbar conjunctival reconstruction. The histopathological diagnosis suggested a conjunctival nevus. After the resection, a reduction in the inflammation and healing of the conjunctival lesion could be seen. The epithelialization of the bulbar conjunctiva over the amniotic membrane was complete 4 weeks after the resection. At the 6-month follow-up, there was no sign of recurrence or any postoperative complications. Conclusion A surgical excision combined with reconstruction via amniotic membrane transplantation is effective and economical for the treatment of large conjunctival lesions.

Published
2018

145. Unilateral Retinal Ischemia

Author

Kelbsch, Carina, additional, Maloca, Peter M., additional, Wilhelm, Helmut, additional, Bartz-Schmidt, Karl Ulrich, additional, and Kernstock, Christoph, additional

Published
2021
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