Member info
Pr Elfride DE BAERE
Belgium
Team
Pr Bart LEROY
Belgium
HCP Center
contact
Ghent University Hospital, Ghent, Belgium
Clinical trials
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
Scientific publications
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
A comprehensive study applying direct Sanger sequencing of the gene‐coding regions, exome and genome sequencing applied to a large cohort of...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in...
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP)...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
We provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to...
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele et al. used multiomics profiling and in vitro and in vivo enhancer assays to dissect the regulatory mechanisms underlying North...
Novel Clinical Observations and Genetic Spectrum in 340 Patients
In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Patients carrying the novel L-I-V-V-A haplotype presented with a mild form of Blue Cone Monochromacy or Bornholm Eye Disease-like phenotype with...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a...
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
In this cross-sectional study, 1,619 ABCA4 variants from 5,579 individuals with STGD1 were collected and...
Recommendations for whole genome sequencing in diagnostics for rare diseases
The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and...
The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
Leber congenital amaurosis associated with GUCY2D caused severe congenital visual impairment with relatively intact macular anatomy on funduscopy...
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
We report a new noncoding mutation at the same locus (chr6:99593030G>C) involving the same DNase I site regulating the retinal transcription...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal...
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing...