Ledeninformatie
Pr José-Alain Sahel
Frankrijk
Team
Pr Isabelle Audo
Frankrijk
Dr Christina Zeitz
Frankrijk
Dr Catherine Vignal-Clermont
Frankrijk
HCP-centrum
contact
RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
Klinische proeven
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.
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.
Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe.
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey.
Phase I/IIa Study of SAR422459 in Patients With Stargardt’s Macular Degeneration.
Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)
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.
Wetenschappelijke publicaties
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
Een uitgebreide studie waarbij directe Sanger-sequencing van de gencoderende regio's, exoom- en genoomsequencing wordt toegepast op een groot cohort van...
Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
Kwantitatieve metingen van SP zijn in twee jaar tijd aanzienlijk afgenomen in USH2A-gerelateerde retinale...
Shedding light on myopia by studying complete congenital stationary night blindness
De resultaten bieden een basis om de ontwikkeling van farmacologische bijziendheid te begeleiden...