Información del miembro
Pr Elfride DE BAERE
Bélgica
Equipo
Pr Bart LEROY
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.
Extension Study to Study PQ-110-001 (NCT03140969).
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
A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Phase 3, Pivotal Study With an Open-Label Extension Period to Evaluate the Efficacy and Safety of Rozanolixizumab in Adult Participants With Myelin Oligodendrocyte Glycoprotein (MOG) Antibody-Associated Disease (MOG-AD)
Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
Phase 3 Randomized, Controlled 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).
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).
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.
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)
Safety and Performance Evaluation of the NR600 System in Subjects With End-stage Inherited Outer Retinal Degenerative Diseases
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
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...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Los pacientes portadores del nuevo haplotipo LIVVA presentaron una forma leve de monocromía de cono azul o fenotipo similar a la enfermedad ocular de Bornholm con...
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...
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
En este estudio transversal, se recopilaron y...
Recommendations for whole genome sequencing in diagnostics for rare diseases
El objetivo de estas recomendaciones es principalmente enumerar los puntos a considerar por genetistas clínicos (de laboratorio), bioinformáticos y...
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...
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot
Reportamos una nueva mutación no codificante en el mismo locus (chr6:99593030G>C) que involucra el mismo sitio DNasa I que regula la transcripción retiniana...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Presentamos una familia consanguínea con tres hijos afectados por hipoplasia foveal con nistagmo infantil, tras una herencia autosómica...
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...