සාමාජික තොරතුරු
Pr Isabelle Audo
ප්රංශය
කණ්ඩායම
Dr Catherine Vignal-Clermont
ප්රංශය
Dr Christina Zeitz
ප්රංශය
Pr José-Alain Sahel
ප්රංශය
HCP මධ්යස්ථානය
අමතන්න
RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
සායනික පරීක්ෂණ
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.
Long-Term Non-Interventional Latanoprost Study
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
විද්යාත්මක ප්රකාශන
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
ඇක්රොමැටොප්සියා (ACHM) යනු පාරම්පරික කේතු ප්රතිග්රාහක ආබාධයක් වන අතර එය වර්ණ වෙනස් කිරීමට ඇති නොහැකියාව, nystagmus, photophobia,...
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
ජාන-කේතකරණ කලාපවල සෘජු සැන්ගර් අනුක්රමය යොදන විස්තීරණ අධ්යයනයක්, එක්සෝම් සහ ජෙනෝම් අනුක්රමණය විශාල සමූහයකට අදාළ වේ.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
අපි සිලිකෝ විශ්ලේෂණයන් පුළුල් ලෙස සපයන අතර කලින් විශ්ලේෂණය කරන ලද මිස්සෙන්ස්, විකාර සහ බෙදීම් ප්රභේදවල වාර්තා වූ ක්රියාකාරී දත්ත සාරාංශ කරමු...
RNA-based therapies in inherited retinal diseases
මෙම සමාලෝචනය සායනික වෛද්ය විද්යාවේ RNA මත පදනම් වූ ප්රතිකාරවල වැඩිවන පළල සහ අදාළත්වය පරීක්ෂා කරනු ඇත, AON සාදන ප්රධාන ලක්ෂණ ගවේෂණය කරනු ඇත.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
විකෘති උපකල්පන භාවිතා කරමින්, අපි විකෘති සිදුවීමට පෙර OPN1LW/OPN1MW ජාන පොකුරේ සංයුතිය සහ පිටපත් අංකය ප්රතිනිර්මාණය කළෙමු...
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
RUSH2A කල්පවත්නා දත්ත මගින් මෙම පියවරයන් රෝගයේ ප්රගතිය සමඟ වෙනස් වන ආකාරය සහ ඒවා කල්පවත්නා අධ්යයනයන් සඳහා ප්රයෝජනවත්ද යන්න තීරණය කරනු ඇත.
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)
FAF පහසු අධීක්ෂණ මෙවලමක් ලෙස සේවය කළ හැකි අතර රෝග මන්දගාමී කිරීම අරමුණු කරගත් මැදිහත්වීමේ සායනික අත්හදා බැලීම් සඳහා සුදුසු අවසාන ලක්ෂ්යයක් ලෙස සේවය කළ හැකිය.
Shedding light on myopia by studying complete congenital stationary night blindness
ප්රතිඵල ඖෂධීය මයෝපියාව වර්ධනය කිරීමට මඟ පෙන්වීම සඳහා පදනමක් සපයයි.