Mitgliederinformationen
Dr Katarina Stingl
Deutschland
Team
Dr Susanne KOHL
Deutschland
M.Sc. Melanie Kempf
Deutschland
HCP-Zentrum
Kontakt
Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Klinische Studien
NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa
A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss
An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects G (p.Cys998X) Mutation.
An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3
A Phase 3, Randomized, International Multicenter Trial of DAY101 Monotherapy Versus Standard of Care Chemotherapy in Patients with Pediatric Low-Grade Glioma Harboring an Activating RAF Alteration Requiring First-Line Systemic Therapy
MyopiaX Treatment for the Reduction of Myopia Progression in Children and Adolescents: Safety and Efficacy Investigation
Transcorneal Electrostimulation for Therapy of Retinitis Pigmentosa.
This is a single-arm open label interventional safety trial with RP patients, who receive weekly TES for 6 months on 1 eye followed by observation for another 6 months without stimulation. The primary outcome measure is safety, indicated by the frequency and severity of adverse events.
Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS).
CURETINA personalized medicine in hereditary retinal degenerations
PIGMENT – PDE6A gene therapy for retinitis pigmentosa.
A double-masked, randomized, controlled, multiple-dose study to evaluate the efficacy, safety, tolerability and systemic exposure of QR-110 in Subjects with Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G mutation (p.Cys998X) in the CEP290 gene (Illuminate).
Safety and Efficacy of Emixustat in Stargardt Disease.
An Open-Label Safety Study of Retinal Gene Therapy for Choroideremia with Bilateral,Sequential Administration of Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1).
A Randomised, Open Label, Outcomes-Assessor Masked, Prospective, Parallel Controlled Group, Phase 3 Clinical Trial Of Retinal Gene Therapy For Choroideremia Using An Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1)
Natural History of the Progression of Choroideremia Study NSR-CHM-OS1.
Rate of Progression in USH2A Related Retinal Degeneration
A Long-term Follow-up Study to Evaluate the Safety and efficacy of Retinal Gene Therapy in Subjects with choroideremia treated previously with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) in an Antecedent Study.
A Study of the Efficacy and Safety of QLT091001 in Subjects with Inherited Retinal Disease (IRD) Caused by Mutation in Retinal Pigment Epithelium Protein 65 (RPE65) or Lecithin : Retinol Acyltransferase (LRAT).
A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber’s Hereditary Optic Neuropathy (LHON).
Tübingen Choroideremia gene therapy trial open label Phase 2 clinical trial using anadeno-associated viral vector (AAV2) encoding Rab-escort protein 1 (REP1)
Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT.
Safety and efficacy of a single subretinal injection of rAAV.hCNGA3 in patients with CNGA3-linked achromatopsia investigated in an exploratory, dose-escalation trial.
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy (ProgStar-4).
A Phase 2b, Randomized, Double-masked, Multicenter, Dose-ranging, Sham-controlled Clinical Trial to Evaluate Intravitreal JNJ-81201887 (AAVCAGsCD59) Compared to Sham Procedure for the Treatment of Geographic Atrophy (GA) Secondary to Age-related Macular Degeneration (AMD)
A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects With Autosomal Recessive Stargardt Disease
A Phase 3 Multicenter, Randomized, Double Masked, Sham- Controlled Clinical Trial to Assess the Safety and Efficacy of Intravitreal Administration of Zimura (Complement C5 Inhibitor) in Patients With Geographic Atrophy Secondary to Age-Related Macular Degeneration
Evaluation of the effectiveness of transcorneal electrostimulation in patients with retinitis pigmentosa - a multicenter, prospective, randomized, controlled and double-blind study on behalf of the G-BA
Retina Implant Pilot Trial to Evaluate Safety & Efficacy in Blind Patients HavingDegenerated Photo-receptors
Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients.
Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis orRetinitis Pigmentosa (Extension of Study RET IRD 01)
Transcorneal Electrical Stimulation - Multicenter Safety Study.
Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparationto a Gene Therapy Trial
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher
Qualification for Cone-Optogenetics (EyeConic)
Natural history of the progression of X-linked retinitis pigmentosa.
Retrospective Non-Interventional Study to Evaluate the Patient Benefit of Transcorneal Electrostimulation (TES)
European Disease Registry on Retinopathy of Prematurity (ROP)
Early Reperfusion Therapy With Intravenous Alteplase for Recovery of VISION in Acute Central Retinal Artery Occlusion
A Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET)
Wissenschaftliche Veröffentlichungen
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsie (ACHM) ist eine erbliche Störung der Zapfen-Photorezeptoren, die durch die Unfähigkeit, Farben zu unterscheiden, Nystagmus, Photophobie usw. gekennzeichnet ist.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Wir bieten umfassende In-silico-Analysen und fassen gemeldete Funktionsdaten zuvor analysierter Missense-, Nonsense- und Splicing-Varianten zusammen, um...
Evaluation of Local Rod and Cone Function in Stargardt Disease
Die Funktionsanalyse der Makularegion bei der STGD1-Krankheit weist auf eine verminderte Funktion des zentralen Zapfens hin, entsprechend der Photorezeptorfunktion.
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Patienten, die den neuartigen LIVVA-Haplotyp tragen, zeigten eine milde Form der Blauzapfenmonochromie oder einen Bornholm-Augenkrankheit-ähnlichen Phänotyp mit...
RNA-based therapies in inherited retinal diseases
Dieser Aufsatz untersucht die zunehmende Breite und Relevanz RNA-basierter Therapien in der klinischen Medizin und untersucht die Schlüsselmerkmale, die AONs ausmachen ...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Unter Verwendung sparsamer Annahmen haben wir die Zusammensetzung und Kopienzahl des OPN1LW/OPN1MW-Genclusters vor dem Mutationsereignis rekonstruiert ...
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
Die Längsschnittdaten von RUSH2A werden bestimmen, wie sich diese Messungen mit dem Fortschreiten der Krankheit ändern und ob sie für Längsschnittstudien in ... nützlich sind.
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net
Diese zweite multinationale Umfrage zum Management von IRDs in Europa zeigt anhaltende wichtige Unterschiede in der Anzahl der behandelten IRD-Patienten auf ...
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey
Ein elektronischer Umfragefragebogen mit 48 Fragen, der sich speziell mit RPE65-IRD befasst (Umfrage 2019 35), wurde entwickelt und bis Juni 2021 an 95 gesendet.
Repeatability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients With Recessive Stargardt Disease 1
Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
Die quantitativen SP-Messwerte gingen bei USH2A-bedingten Netzhauterkrankungen über einen Zeitraum von zwei Jahren deutlich zurück.