Biedru informācija
Pr Elfride DE BAERE
Beļģija
Komanda
Pr Bart LEROY
Beļģija
HCP centrs
kontakts
Ghent University Hospital, Ghent, Belgium
Klīniskie izmēģinājumi
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
Zinātniskās publikācijas
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
Visaptverošs pētījums, kurā tika izmantota gēnu kodēšanas reģionu tiešā Sangera sekvencēšana, eksoma un genoma sekvencēšana, kas piemērota lielai grupai...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE veicina piekļuvi ģenētiskajai testēšanai RED un uzsver ģenētiskās testēšanas klīnisko nepieciešamību un nozīmi...
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Mēs aprakstām gan fenotipu, gan patoģenēzi diviem vīriešu kārtas brāļiem un māsām ar tipisku pigmentozu retinītu (RP) un potenciāli ar X saistītu RP (XLRP)...
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Mēs piedāvājam plašu in silico analīzi un apkopojam ziņotos funkcionālos datus par iepriekš analizētajiem missense, nonsense un splicing variantiem, lai...
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele et al. izmantoja multiomikas profilēšanu un in vitro un in vivo pastiprinātāju testus, lai izdalītu regulējošos mehānismus, kas ir pamatā Ziemeļu ...
Novel Clinical Observations and Genetic Spectrum in 340 Patients
Lielākajai daļai pacientu XLRS uzrādīja lēnu pasliktināšanos, sākot ar otro dzīves desmitgadi, kas liecina par optimālu iespēju...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Pacientiem ar jauno LIVVA haplotipu bija viegla zilā konusa monohromatijas forma vai Bornholmas acu slimībai līdzīgs fenotips ar...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Mūsu dati apstiprina hipotēzi, ka CACNA1F varētu būt saistīts ar agrīnu vai iedzimtu redzes nerva iesaistīšanos bez jebkādām...
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
Šajā šķērsgriezuma pētījumā tika savākti 1,619 ABCA4 varianti no 5,579 indivīdiem ar STGD1 un...
Recommendations for whole genome sequencing in diagnostics for rare diseases
Šo ieteikumu mērķis galvenokārt ir uzskaitīt punktus, kas jāņem vērā klīniskajiem (laboratorijas) ģenētiķiem, bioinformātiķiem un...
The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
Lēbera iedzimtā amauroze, kas saistīta ar GUCY2D, funduskopijā izraisīja smagus iedzimtus redzes traucējumus ar salīdzinoši neskartu makulas anatomiju...
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
Mēs ziņojam par jaunu nekodējošu mutāciju tajā pašā lokusā (chr6: 99593030G> C), kas ietver to pašu DNāzes I vietni, kas regulē tīklenes transkripciju ...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Šeit mēs piedāvājam radniecīgu ģimeni ar trim bērniem, ko skārusi foveālā hipoplāzija ar zīdaiņu nistagmu pēc autosomālas...
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
Izpētīt dabisko vēsturi pacientiem ar LRAT- saistītās tīklenes deģenerācijas (RD) klīnisko izmēģinājumu testēšanas laikā...