Informacje o członku

Dr Susanne KOHL
Niemcy
Zespół

Pr Katarina Stingl
Niemcy

M.Sc. Melanie Kempf
Niemcy
Centrum HCP

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Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany
Badania kliniczne

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)
Publikacje naukowe
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsja (ACHM) to dziedziczne zaburzenie fotoreceptorów czopkowych charakteryzujące się niezdolnością do rozróżniania kolorów, oczopląsem, światłowstrętem,...
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
Kompleksowe badanie wykorzystujące bezpośrednie sekwencjonowanie Sangera regionów kodujących geny, sekwencjonowanie egzomu i genomu zastosowane w dużej kohorcie…
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promuje dostęp do badań genetycznych w regionie RED i podkreśla potrzebę kliniczną oraz znaczenie badań genetycznych w...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Zapewniamy obszerne analizy in silico i podsumowujemy zgłoszone dane funkcjonalne wcześniej przeanalizowanych wariantów missense, nonsens i splicingu, aby...
Evaluation of Local Rod and Cone Function in Stargardt Disease
Analiza funkcjonalna obszaru plamki żółtej w chorobie STGD1 wskazuje na zmniejszoną funkcję centralnego czopka, odpowiadającą fotoreceptorom...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
U pacjentów niosących nowy haplotyp LIVVA wykazano łagodną postać monochromacji niebieskiego stożka lub fenotyp podobny do choroby oczu Bornholm z...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Stosując oszczędne założenia, zrekonstruowaliśmy skład i liczbę kopii klastra genów OPN1LW/OPN1MW przed zdarzeniem mutacji...
Genetic and Clinical Characterization of Danish Achromatopsia Patients
Chociaż nadal nie można stwierdzić wyraźnej korelacji genotyp-fenotyp, mogą występować różnice w cechach fenotypowych w przypadku wariantów...
KCNV2-associated retinopathy: genotype-phenotype correlations – KCNV2 study group report 3
Pacjenci ze zmianami sensu mieli lepszą BCVA i większą integralność strukturalną. Ma to znaczenie dla rokowania pacjenta i...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Przedstawiamy pokrewną rodzinę z trójką dzieci dotkniętą niedorozwojem dołka oka z oczopląsem dziecięcym, wynikającą z choroby autosomalnej...