Informazioni sui membri
Pr Elfride DE BAERE
Belgio
Team
Pr Bart LEROY
Belgio
Centro HCP
contatti
Ghent University Hospital, Ghent, Belgium
Test clinici
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
Pubblicazioni scientifiche
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
Uno studio completo che applica il sequenziamento diretto di Sanger delle regioni codificanti il gene, il sequenziamento dell'esoma e del genoma applicato a un'ampia coorte di...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE promuove l'accesso ai test genetici in RED e sottolinea la necessità clinica e la rilevanza dei test genetici in...
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Descriviamo sia il fenotipo che la patogenesi in due fratelli maschi con la tipica retinite pigmentosa (RP) e la RP potenzialmente legata all'X (XLRP)...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Forniamo analisi approfondite in silico e riassumiamo i dati funzionali riportati delle varianti missenso, non senso e di splicing precedentemente analizzate per...
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele et al. ha utilizzato la profilazione multiomica e test di potenziamento in vitro e in vivo per analizzare i meccanismi regolatori alla base di North...
Novel Clinical Observations and Genetic Spectrum in 340 Patients
Nella maggior parte dei pazienti, la XLRS ha mostrato un lento deterioramento a partire dalla seconda decade di vita, suggerendo una finestra di opportunità ottimale per...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
I pazienti portatori del nuovo aplotipo LIVVA presentavano una forma lieve di monocromia dei coni blu o un fenotipo simile alla malattia dell'occhio di Bornholm con...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
I nostri dati supportano l'ipotesi che CACNA1F potrebbe essere correlato al coinvolgimento precoce o congenito del nervo ottico senza alcun segno di...
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
In questo studio trasversale sono state raccolte 1,619 varianti ABCA4 da 5,579 individui con STGD1 e...
Recommendations for whole genome sequencing in diagnostics for rare diseases
Lo scopo di queste raccomandazioni è principalmente quello di elencare i punti da considerare per i genetisti clinici (di laboratorio), i bioinformatici e...
The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
L'amaurosi congenita di Leber associata a GUCY2D ha causato un grave deficit visivo congenito con anatomia maculare relativamente intatta alla funduscopia...
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
Riportiamo una nuova mutazione non codificante nello stesso locus (chr6:99593030G>C) che coinvolge lo stesso sito della DNasi I che regola la trascrizione retinica...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Presentiamo qui una famiglia consanguinea con tre bambini affetti da ipoplasia foveale con nistagmo infantile, a seguito di una malattia autosomica...
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
Per indagare la storia naturale nei pazienti con LRAT-degenerazioni retiniche associate (RD), con l'avvento degli studi clinici che testano...