Informacje o członku
Pr Isabelle Audo
Francja
Zespół zarządzający
Dr Catherine Vignal-Clermont
Francja
Dr Christina Zeitz
Francja
Pr José-Alain Sahel
Francja
Centrum HCP
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RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
Badania kliniczne
A Post-Authorization, Multicenter, Multinational, Longitudinal,Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec.
A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt’s Macular Degeneration.
An Open-Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B.
Argus® II Retinal Prosthesis System: Post-Market Study
Argus® II Retinal Stimulation System Feasibility Protocol.
LIGHT4DEAF study: study of the natural history of the syndrome of usher in a cohort of patients followed longitudinally for 5 years.
Phase I/IIa Study of SAR422459 in Patients With Stargardt’s Macular Degeneration.
Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)
Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in SubjectsWith Retinitis Pigmentosa (PIONEER).
Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RetinitisPigmentosa Due to Mutations in Exon 13 of the USH2A Gene (Stellar)
Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B.
Prospective study of visual function in USHER syndrome induced by MYO7A mutation and retinotosis pigmentosa.
Phase 3 Randomized, Controlled Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS).
Retrospective Natural History Study of Retinitis Pigmentosa.
Validation of standardized test protocols to assess the impact of visual pathologies in daily life activities.
Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation.
Design of a mobility protocol allowing to assess the impact of visual pathologies in activities of daily living for subjects with advanced visual deficits.
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).
High resolution and high speed Multimodal Ophthalmic Imaging (IMA-MODE).
Promising ROd-cone DYstrophy Gene therapY (PRODYGY)
Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (MADEOS).
Safety and Efficacy of Emixustat in Stargardt Disease.
Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials (RESTORE)
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.
An open label dose escalation clinical trial to evaluate the safety and the tolerability of gs010 (rAAV2/2-ND4) in patients with leber hereditary optic neuropathy due to mutations in the mitochondrial nadh dehydrogenase 4 gene.
A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber’s Hereditary Optic Neuropathy (LHON).
Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation.
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation.
Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe.
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, Open-Label, Multicenter, Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegcetacoplan in Subjects With Geographic Atrophy Secondary to Age-Related Macular Degeneration
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
Evaluation of safety and efficacy of r-hNGF in patients with stage 2 and 3 Neurotrophic Keratitis (REPARO).
Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher
Global Patient Registry of Inherited Retinal Disease
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…
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...
RNA-based therapies in inherited retinal diseases
W tym przeglądzie zbadamy rosnący zakres i znaczenie terapii opartych na RNA w medycynie klinicznej, zbadamy kluczowe cechy, które sprawiają, że AON...
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...
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
Dane podłużne projektu RUSH2A pozwolą określić, jak te środki zmieniają się wraz z postępem choroby i czy są przydatne w badaniach podłużnych w...
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)
FAF może służyć jako wygodne narzędzie monitorowania i odpowiedni punkt końcowy w interwencyjnych badaniach klinicznych, których celem jest spowolnienie choroby...
Shedding light on myopia by studying complete congenital stationary night blindness
Wyniki stanowią podstawę do ukierunkowania rozwoju krótkowzroczności farmakologicznej...