Liikmete teave
Pr Elfride DE BAERE
Belgia
meeskond
Pr Bart LEROY
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.
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
Teaduslikud väljaanded
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...
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Uudset LIVVA haplotüüpi kandvatel patsientidel esines sinise koonuse monokromaatia või Bornholmi silmahaiguselaadse fenotüübi kerge vorm...
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...
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
Selles läbilõikeuuringus koguti 1,619 STGD4-ga isikult 5,579 ABCA1 varianti ja...
Recommendations for whole genome sequencing in diagnostics for rare diseases
Nende soovituste eesmärk on eelkõige loetleda punktid, mida kliiniliste (labori)geneetikute, bioinformaatikute ja...
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 ...
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
Teatame uuest mittekodeerivast mutatsioonist samas lookuses (chr6: 99593030G> C), mis hõlmab sama võrkkesta transkriptsiooni reguleerivat DNaasi I saiti ...
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Siin esitleme kolme lapsega perekonda, kellel on autosomaalsele...
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...