Ophthalmology
Anterior segment dysgeneses
NCT05390801 – Congenital Aniridia Patient Questionnaire
Methods and pharmaceutical compositions for treating ocular diseases
Cone dysfunction syndromes
Congenital and infantile cataracts
Congenital and infantile glaucomas
Congenital Stationary Night Blindness
Hereditary optic neuropathies (HON)
DNA from patients
Patient cohort
DNA and Fibroblasts from patients with ADONs
Dnmt1l +/- mouse model
Patient cohort
Foxe3em1Goph mice
Macular dystrophies
DNA and fibroblasts samples from patients with Stargardt disease
Injection of naked 2′-O-Methyl-phosphorothioate (2’OMePS) antisense-oligonucleotides (AON)
Urine-derived Renal Epithelial Cells (UREC)
300 patient cohort
Microphthalmias and anophthalmias
> 100 pediatric and adult patients
DNA samples from patients with ALDH1A3 deficiency
Patient cohort
Optic nerve malformations
Phacomatoses
NCT04153344 – Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis
Retinal dystrophies including ciliopathies
NCT04685109 – 3 Month Study of Alocross Versus Vismed in Adults With Dry Eye Disease Related to Keratitis or Keratoconjunctivitis
Cep290 del/del mouse model
Cep290 Ki mouse models
DNA and fibroblasts from LCA10 patients
Fibroblasts from patients
Injection of naked 2′-O-Methyl-phosphorothioate (2’OMePS) antisense-oligonucleotides (AON) for LCA10 patients
>700 patient cohort
Methods for the treatment of retinal dystrophies by exon6 skipping strategy
Methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof
Compositions and methods for the treatment of leber congenital amaurosis
DNA samples from patients with XLRP
300 patientscohort
Retinal Vasculopathies
Tumors of the retina and optic disk
Dysostosis
Patient cohort