Member info
Pr Isabelle Audo
France
Team
Dr Catherine Vignal-Clermont
France
Dr Christina Zeitz
France
Pr José-Alain Sahel
France
HCP Center
contact
RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
Clinical trials
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
Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
Scientific publications
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, 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
A comprehensive study applying direct Sanger sequencing of the gene‐coding regions, exome and genome sequencing applied to a large cohort of...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
We provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to...
RNA-based therapies in inherited retinal diseases
This review will examine the increasing breadth and relevance of RNA-based therapies in clinical medicine, explore the key features that make AONs...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Using parsimonious assumptions, we reconstructed the composition and copy number of the OPN1LW/ OPN1MW gene cluster prior to the mutation event...
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
RUSH2A longitudinal data will determine how these measures change with disease progression and whether they are useful for longitudinal studies in...
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)
FAF may serve as a convenient monitoring tool and suitable end point for interventional clinical trials that aim to slow disease...
Shedding light on myopia by studying complete congenital stationary night blindness
The results provide a foundation to guide the development of pharmacological myopia...