Liikmete teave
Pr Bart LEROY
Belgia
meeskond
Pr Elfride DE BAERE
Belgia
HCP keskus
kontakt
Ghent University Hospital, Ghent, Belgium
Kliinilised uuringud
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
Teaduslikud väljaanded
Hydroxychloroquine hitting the headlines – retinal considerations
Selles juhtkirjas rõhutame nende ravimite hoolika kasutamise tähtsust, kuna need võivad põhjustada pöördumatut toksilist...
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
Põhjalik uuring, milles rakendati geeni kodeerivate piirkondade otsest Sangeri sekveneerimist, eksoomi ja genoomi järjestamist, mida rakendati suurele rühmale...
The need for widely available genomic testing in rare eye diseases: an ERN‑EYE position statement
ERN-EYE soodustab juurdepääsu geenitestidele RED-s ja rõhutab geneetilise testimise kliinilist vajadust ja asjakohasust...
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Kirjeldame nii fenotüüpi kui ka patogeneesi kahel meessoost õel-vennal, kellel on tüüpiline pigmentosa retiniit (RP) ja potentsiaalselt X-seotud RP (XLRP).
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Pakume ulatuslikke in silico analüüse ja teeme kokkuvõtte varem analüüsitud missense, nonsense ja splaissinguvariantide esitatud funktsionaalsetest andmetest, et...
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele jt. kasutas multiomika profiilide koostamist ning in vitro ja in vivo võimendajateste, et lahkada Põhja-Ameerika aluseks olevaid regulatiivseid mehhanisme.
Novel Clinical Observations and Genetic Spectrum in 340 Patients
Enamikul patsientidel näitas XLRS aeglast halvenemist alates teisest elukümnendist, mis viitab optimaalsele võimalusele...
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
Meie andmed toetavad hüpoteesi, et CACNA1F võib olla seotud varajase algusega või kaasasündinud nägemisnärvi haaratusega, ilma et oleks...
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa
Et hinnata katarakti operatsiooni visuaalset tulemust pigmentosa retiniidiga patsientidel...
RNA-based therapies in inherited retinal diseases
Selles ülevaates uuritakse RNA-põhiste ravimeetodite kasvavat ulatust ja olulisust kliinilises meditsiinis, uuritakse peamisi omadusi, mis muudavad AON-id ...
The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
GUCY2D-ga seotud Leberi kaasasündinud amauroos põhjustas funduskoopial raske kaasasündinud nägemiskahjustuse suhteliselt puutumata makulaarse anatoomiaga ...
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
Meie andmed näitavad, et ravi (suukaudse) CAI-ga võib olla kasulik CFC lühiajaliseks raviks patsientidel, kellel on...
Analysis of KERA in four families with cornea plana identifies two novel mutations
Et tuvastada molekulaargeneetiline põhjus neljas erineva etnilise taustaga sarvkesta perekonnas...
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
Loodusliku ajaloo uurimiseks patsientidel, kellel on LRAT-seotud võrkkesta degeneratsioonid (RD-d) kliiniliste uuringute tulekul...
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Kümme Leberi kaasasündinud amauroosiga patsienti, kes kandsid c.2991+1655A>G alleeli tsiliopaatia geeni tsentrosomaalses proteiinis 290 (CEP290), olid...