Información del miembro
Pr Bart LEROY
Bélgica
Equipo
Pr Elfride DE BAERE
Bélgica
Centro HCP
contacte
Ghent University Hospital, Ghent, Belgium
Los ensayos clínicos
An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects G (p.Cys998X) Mutation.
A Phase 3, Randomized, International Multicenter Trial of DAY101 Monotherapy Versus Standard of Care Chemotherapy in Patients with Pediatric Low-Grade Glioma Harboring an Activating RAF Alteration Requiring First-Line Systemic Therapy
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).
Extension Study to Study PQ-110-001 (NCT03140969).
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).
Efficacy & Safety Study of Bilateral Intravitreal Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year (REFLECT).
Study to Evaluate QR-110 in Subjects With Leber’s Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene.
Rate of Progression in USH2A Related Retinal Degeneration
Historical Case Record Survey of Visual Acuity Data From Patients With Leber’s Hereditary Optic Neuropathy (LHON).
A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176.
Safety and Performance Evaluation of the NR600 System in Subjects With End-stage Inherited Outer Retinal Degenerative Diseases
A Phase 2b, Randomized, Double-masked, Multicenter, Dose-ranging, Sham-controlled Clinical Trial to Evaluate Intravitreal JNJ-81201887 (AAVCAGsCD59) Compared to Sham Procedure for the Treatment of Geographic Atrophy (GA) Secondary to Age-related Macular Degeneration (AMD)
The Belgian Endothelial Surgical Transplant of the Cornea:Clinical and Patient-reported Outcomes of Descemet Stripping Automated Endothelial Keratoplasty(DSAEK) Versus Descemet Membrane Endothelial Keratoplasty(DMEK)
A Prospective, Open-label, Single-center, Study of the ACUSURGICAL Luca System for Treatment of Vitreoretinal Diseases
Phase I Trial of Gene Vector to Patients with Retinal Disease due toRPE65 mutations
A Prospective Observational Study of Patients Receiving Dupixent® for Atopic Dermatitis
Publicaciones científicas
Hydroxychloroquine hitting the headlines – retinal considerations
En este editorial destacamos la importancia del uso cuidadoso de estos fármacos, por su potencial de causar un tóxico irreversible...
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
Un estudio integral que aplica la secuenciación directa de Sanger de las regiones codificantes de genes, la secuenciación del exoma y del genoma aplicada a una gran cohorte de...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promueve el acceso a las pruebas genéticas en RED y enfatiza la necesidad clínica y la relevancia de las pruebas genéticas en...
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
... Describimos tanto el fenotipo como la patogénesis en dos hermanos varones con retinosis pigmentaria (RP) típica y RP potencialmente ligada al cromosoma X (XLRP)...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Proporcionamos amplios análisis in silico y resumimos los datos funcionales informados de variantes sin sentido, sin sentido y de empalme previamente analizadas para...
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele et al. utilizó perfiles multiómicos y ensayos potenciadores in vitro e in vivo para analizar los mecanismos reguladores subyacentes a North...
Novel Clinical Observations and Genetic Spectrum in 340 Patients
En la mayoría de los pacientes, XLRS mostró un lento deterioro a partir de la segunda década de la vida, lo que sugiere una ventana de oportunidad óptima para...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Nuestros datos apoyan la hipótesis de que CACNA1F podría estar relacionado con una afectación temprana o congénita del nervio óptico sin ningún signo de...
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa
Evaluar el resultado visual de la cirugía de cataratas en pacientes con retinosis pigmentaria...
RNA-based therapies in inherited retinal diseases
Esta revisión examinará la creciente amplitud y relevancia de las terapias basadas en ARN en la medicina clínica, explorará las características clave que hacen que los AON...
The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
La amaurosis congénita de Leber asociada con GUCY2D causó una discapacidad visual congénita grave con una anatomía macular relativamente intacta en el fondo de ojo...
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
Nuestros datos indican que el tratamiento con CAI (oral) puede ser beneficioso para el tratamiento a corto plazo de CFC en pacientes con...
Analysis of KERA in four families with cornea plana identifies two novel mutations
Identificar la causa genética molecular en cuatro familias de diversos orígenes étnicos con córnea...
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
Investigar la historia natural en pacientes con LRAT-Degeneraciones de retina (DR) asociadas, en la llegada de ensayos clínicos que prueban...
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Diez pacientes con amaurosis congénita de Leber que portaban el alelo c.2991+1655A>G en la proteína centrosomal 290 del gen de la ciliopatía (CEP290) fueron...