Mitgliederinformationen
Dr Susanne KOHL
Deutschland
Team
Dr Katarina Stingl
Deutschland
M.Sc. Melanie Kempf
Deutschland
HCP-Zentrum
Kontakt
Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Klinische Studien
PIGMENT – PDE6A gene therapy for retinitis pigmentosa.
CURETINA personalized medicine in hereditary retinal degenerations
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).
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.
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
Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
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.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
Eine umfassende Studie, in der die direkte Sanger-Sequenzierung der genkodierenden Regionen sowie die Exom- und Genomsequenzierung auf eine große Kohorte von ... angewendet wurden.
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE fördert den Zugang zu Gentests bei RED und betont die klinische Notwendigkeit und Relevanz von Gentests bei...
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...
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 ...
Genetic and Clinical Characterization of Danish Achromatopsia Patients
Obwohl noch keine eindeutige Genotyp-Phänotyp-Korrelation festgestellt werden kann, kann es bei Varianten zu Unterschieden in den phänotypischen Merkmalen kommen...
KCNV2-associated retinopathy: genotype-phenotype correlations – KCNV2 study group report 3
Patienten mit Missense-Veränderungen hatten eine bessere BCVA und eine größere strukturelle Integrität. Dies ist wichtig für die Patientenprognose und...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Hier stellen wir eine blutsverwandte Familie mit drei Kindern vor, die nach einer autosomalen Erkrankung an fovealer Hypoplasie mit infantilem Nystagmus leiden.