Informações do membro
Pr Elfride DE BAERE
Bélgica
A Nossa Equipa
Pr Bart LEROY
Bélgica
Centro de saúde
Contacto
Ghent University Hospital, Ghent, Belgium
Ensaios 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
Publicações 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
Um estudo abrangente aplicando sequenciamento Sanger direto das regiões codificadoras de genes, exoma e sequenciamento do genoma aplicado a uma grande coorte de...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promove o acesso a testes genéticos no RED e enfatiza a necessidade clínica e relevância dos testes genéticos em...
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Descrevemos o fenótipo e a patogênese em dois irmãos do sexo masculino com retinite pigmentosa (RP) típica e RP potencialmente ligada ao X (XLRP)...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Fornecemos extensas análises in silico e resumimos dados funcionais relatados de variantes missense, absurdo e splicing previamente analisadas para...
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele et al. usaram perfis multiômicos e ensaios de intensificadores in vitro e in vivo para dissecar os mecanismos regulatórios subjacentes ao Norte...
Novel Clinical Observations and Genetic Spectrum in 340 Patients
Na maioria dos pacientes, a XLRS mostrou uma deterioração lenta a partir da segunda década de vida, sugerindo uma janela de oportunidade ideal para...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Pacientes portadores do novo haplótipo LIVVA apresentaram uma forma leve de monocromacia de cone azul ou fenótipo semelhante à doença ocular de Bornholm com...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Nossos dados apoiam a hipótese de que CACNA1F poderia estar relacionado ao envolvimento precoce ou congênito do nervo óptico sem quaisquer sinais de...
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
Neste estudo transversal, foram coletadas 1,619 variantes do ABCA4 de 5,579 indivíduos com STGD1 e...
Recommendations for whole genome sequencing in diagnostics for rare diseases
O objetivo destas recomendações é principalmente listar os pontos a serem considerados pelos geneticistas clínicos (laboratoriais), bioinformáticos e...
The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
A amaurose congênita de Leber associada ao GUCY2D causou grave deficiência visual congênita com anatomia macular relativamente intacta na fundoscopia...
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
Relatamos uma nova mutação não codificante no mesmo locus (chr6:99593030G>C) envolvendo o mesmo sítio de DNase I que regula a transcrição da retina...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Apresentamos aqui uma família consanguínea com três filhos acometidos por hipoplasia foveal com nistagmo infantil, na sequência de uma doença autossômica...
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
Investigar a história natural em pacientes com LRAT-degenerações retinianas (DRs) associadas, no advento dos ensaios clínicos testando...