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Dra. Katarina Stingl

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Informações do membro

Dr Katarina Stingl

Representante

Alemanha

Líder do Grupo de Trabalho: Pesquisa (TWG8)
Outros grupos de trabalho: Doenças Oculares Raras da Retina (WG1), Grupos de Vida Diária e Pacientes com Visão Subnormal (TWG5), Registros e Epidemiologia (TWG7), Pesquisa (TWG8)

A Nossa Equipa

Dr Susanne KOHL

Alemanha

Diagnóstico Genético (TWG6), Registros e Epidemiologia (TWG7), Pesquisa (TWG8), Doenças Oculares Raras da Retina (WG1)
Líder do Grupo de Trabalho
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Dr Thomas Wheeler-Schilling

Alemanha

Integração Nacional (TWG9)
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Prof. Dr. med. Karl Ulrich Bartz-Schmidt

Alemanha

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M.Sc. Melanie Kempf

Alemanha

Grupos de Vida Diária e Pacientes com Baixa Visão (TWG5), Doenças Oculares Raras da Retina (WG1)
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Dr Milda Reith

Alemanha

Doenças oculares raras da retina (WG1)
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Pr Krunoslav Stingl

Alemanha

Pesquisa (TWG8), Doenças Oculares Raras da Retina (WG1)
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Pr Ronja Jung

Alemanha

Pesquisa (TWG8), Doenças Oculares Raras da Retina (WG1)
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Centro de saúde

O University Eye Hospital oferece cuidados de saúde em todas as áreas da oftalmologia com o mais alto nível de qualidade, com mais de 60.000 consultas de...

Contacto

Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Department für Augenheilkunde Tübingen Forschungsinstitut für Augenheilkunde Elfriede-Aulhorn-Str. 7
72076 Tübingen
Germany

Ensaios clínicos

NCT05537220). Ativo, não recrutando

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

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NCT05158296). Ativo, não recrutando

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)

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NCT05176717). Terminado

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

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NCT04855045). Desconhecido

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.

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NCT03001310). Efetuado

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

Intervencionista
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NCT05566795). Recrutamento, Ativo

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

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NCT04967287). Ativo, não recrutando

MyopiaX Treatment for the Reduction of Myopia Progression in Children and Adolescents: Safety and Efficacy Investigation

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NCT01835002). Efetuado

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.

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NCT03913143). Ativo, não recrutando

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).

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NCT03507686). Efetuado

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).

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NCT03496012). Efetuado

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)

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NCT03584165). Recrutamento, Ativo

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.

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2013-005393-22 Efetuado

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).

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NCT02771379). Efetuado

A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber’s Hereditary Optic Neuropathy (LHON).

Observacional
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NCT02671539). Efetuado

Tübingen Choroideremia gene therapy trial open label Phase 2 clinical trial using anadeno-associated viral vector (AAV2) encoding Rab-escort protein 1 (REP1)

Intervencionista
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NCT02575430). Efetuado

Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT.

Observacional
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NCT02610582). Recrutamento, Ativo

Safety and efficacy of a single subretinal injection of rAAV.hCNGA3 in patients with CNGA3-linked achromatopsia investigated in an exploratory, dose-escalation trial.

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NCT02410122). Efetuado

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy (ProgStar-4).

Observacional
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NCT05811351). Recrutamento, Ativo

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)

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NCT03364153). Ativo, não recrutando

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

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NCT04435366). Efetuado

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

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DRKS00023562 Recrutamento, Ativo

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

Intervencionista
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NCT00515814). Efetuado

Retina Implant Pilot Trial to Evaluate Safety & Efficacy in Blind Patients HavingDegenerated Photo-receptors

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NCT01024803). Efetuado

Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients.

Intervencionista
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NCT01521793). Efetuado

Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis orRetinitis Pigmentosa (Extension of Study RET IRD 01)

Intervencionista
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NCT02759952). Recrutamento, Ativo

Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparationto a Gene Therapy Trial

Observacional
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NCT04765345). Ativo, não recrutando

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher

Observacional
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NCT04983914). Efetuado

Retrospective Non-Interventional Study to Evaluate the Patient Benefit of Transcorneal Electrostimulation (TES)

Observacional
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NCT04965038). Recrutamento, Ativo

Early Reperfusion Therapy With Intravenous Alteplase for Recovery of VISION in Acute Central Retinal Artery Occlusion

Intervencionista
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NCT04924608). Não recrutando, Inativo

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)

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Publicações científicas

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Acromatopsia (ACHM) é um distúrbio hereditário de fotorreceptores de cone caracterizado pela incapacidade de discriminar cores, nistagmo, fotofobia,...

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Fornecemos extensas análises in silico e resumimos dados funcionais relatados de variantes missense, absurdo e splicing previamente analisadas para...

Evaluation of Local Rod and Cone Function in Stargardt Disease

A análise funcional da região macular na doença STGD1 indica redução da função do cone central, correspondente ao fotorreceptor...

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

Pacientes portadores do novo haplótipo LIVVA apresentaram uma forma leve de monocromacia de cone azul ou fenótipo semelhante à doença ocular de Bornholm com...

RNA-based therapies in inherited retinal diseases

Esta revisão examinará a crescente amplitude e relevância das terapias baseadas em RNA na medicina clínica, explorará as principais características que tornam os AONs...

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Usando suposições parcimoniosas, reconstruímos a composição e o número de cópias do cluster de genes OPN1LW/OPN1MW antes do evento de mutação...

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

Os dados longitudinais do RUSH2A determinarão como essas medidas mudam com a progressão da doença e se são úteis para estudos longitudinais em...

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

Este segundo inquérito multinacional sobre a gestão de IRD na Europa destaca diferenças importantes e persistentes no número de pacientes com IRD tratados...

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Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey

Um questionário eletrônico de pesquisa com 48 perguntas abordando especificamente o RPE65-IRD (pesquisa 2019 de 35) foi desenvolvido e enviado até junho de 2021 para 95...

PDF - 665 KB

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

As medidas quantitativas de SP diminuíram significativamente ao longo de 2 anos na retina relacionada com USH2A...