Biedru informācija
Pr Bart LEROY
Beļģija
Komanda
Pr Elfride DE BAERE
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.
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
Phase 3 Randomized, Controlled Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
Phase 3 Follow-up 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).
Extension Study to Study PQ-110-001 (NCT03140969).
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).
Efficacy & Safety Study of Bilateral Intravitreal Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year (REFLECT).
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.
Safety and Performance Evaluation of the NR600 System in Subjects With End-stage Inherited Outer Retinal Degenerative Diseases
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)
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
Hydroxychloroquine hitting the headlines – retinal considerations
Šajā redakcijā mēs uzsveram, cik svarīgi ir rūpīgi lietot šīs zāles, jo tās var izraisīt neatgriezenisku toksisku...
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...
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...
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa
Novērtēt kataraktas operācijas vizuālo iznākumu pacientiem ar pigmentozo retinītu...
RNA-based therapies in inherited retinal diseases
Šajā pārskatā tiks pārbaudīts uz RNS balstīto terapiju pieaugošais plašums un nozīme klīniskajā medicīnā, izpētītas galvenās iezīmes, kas padara AON...
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...
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
Mūsu dati liecina, ka ārstēšana ar (orālo) CAI var būt noderīga īslaicīgai CFC ārstēšanai pacientiem ar...
Analysis of KERA in four families with cornea plana identifies two novel mutations
Identificēt molekulāri ģenētisko cēloni četrās dažādas etniskās izcelsmes ģimenēs ar radzeni...
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...
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Desmit pacienti ar Lēbera iedzimto amaurozi, kam ir c.2991+1655A>G alēle ciliopātijas gēna centrosomālajā proteīnā 290 (CEP290), tika...