Informations sur les membres
Dr Katarina Stingl
Allemagne
Équipe
Dr Susanne KOHL
Allemagne
M.Sc. Melanie Kempf
Allemagne
Centre de soins de santé
contact
Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Essais cliniques
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)
Publications scientifiques
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
L'achromatopsie (ACHM) est un trouble héréditaire des photorécepteurs des cônes caractérisé par l'incapacité à discriminer les couleurs, le nystagmus, la photophobie,...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Nous fournissons des analyses in silico approfondies et résumons les données fonctionnelles rapportées des variantes faux-sens, non-sens et d'épissage précédemment analysées pour...
Evaluation of Local Rod and Cone Function in Stargardt Disease
L'analyse fonctionnelle de la région maculaire dans la maladie STGD1 indique une fonction réduite du cône central, correspondant au photorécepteur...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Les patients porteurs du nouvel haplotype LIVVA présentaient une forme légère de monochromie des cônes bleus ou un phénotype semblable à la maladie oculaire de Bornholm avec...
RNA-based therapies in inherited retinal diseases
Cette revue examinera l'étendue et la pertinence croissantes des thérapies basées sur l'ARN en médecine clinique, explorera les caractéristiques clés qui font des AON...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
En utilisant des hypothèses parcimonieuses, nous avons reconstruit la composition et le nombre de copies du groupe de gènes OPN1LW/OPN1MW avant l'événement de mutation...
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
Les données longitudinales RUSH2A détermineront comment ces mesures évoluent avec la progression de la maladie et si elles sont utiles pour les études longitudinales dans...
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
Cette deuxième enquête multinationale sur la prise en charge des IRD en Europe met en évidence des différences importantes et persistantes dans le nombre de patients IRD pris en charge...
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey
Un questionnaire d'enquête électronique de 48 questions s'adressant spécifiquement au RPE65-IRD (enquête 2019 35) a été élaboré et envoyé d'ici juin 2021 à 95...
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
Les mesures quantitatives de SP ont diminué de manière significative sur 2 ans dans la rétine liée à USH2A...