An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety...
Leber Congenital Amaurosis 10Blindness9 morePQ-110-005 (BRIGHTEN) is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8 years of age) with LCA10 due to the c.2991+1655A>G mutation over 24 months of treatment.
Effects of a Combination of Polyphenol-rich Extracts on the Protection of Retinal Cells Against...
Eye AbnormalitiesThe aim of the study is to confirm that daily supplementation with a product containing a standardized combination of polyphenol-rich extracts has a protective effect against potential blue-light-induced damage to retinal cells.
Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to...
Retinitis PigmentosaUsher Syndrome Type 27 moreThe purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
Single Ascending Dose Study in Participants With LCA10
Leber Congenital Amaurosis 10Inherited Retinal Dystrophies6 moreThe purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound heterozygous mutation involving c.2991+1655A>G in intron 26 of the CEP290 gene ("LCA10-IVS26").
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen...
Leber Congenital Amaurosis 10Blindness9 moreThe purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects with Leber's Congenital Amaurosis (LCA) due to the CEP290 p.Cys998X mutation after 24 months of treatment
National Cohort on Congenital Defects of the Eye
AnophthalmiaMicrophthalmia5 moreCongenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular features in patients. The originality of the project will be to include a spectrum of malformation thought to be a phenotypic continuum (anophthalmia, microphthalmia, aniridia, anterior segment dysgnesis). In addition, we aim to conduct a 10 year follow-up of these children, thus allowing determining ocular and neurological outcomes as any other medical event. We should also be able to determine phenotypic factors that would be associated with good or poor visual and neurologic outcomes
Relation Between Oculocardiac Reflex and Laryngospasm
Eye AbnormalitiesArrythmiaThe aim of this study is to evaluate whether there is a significant relation between various arrhythmias during the surgeon's stretching the eye muscles and laryngospasm and emergence agitation in strabismus surgeries
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford...
Rare DisordersUndiagnosed Disorders316 moreCoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations...
Retinitis PigmentosaUsher Syndrome Type 27 moreThe purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with early to moderate vision loss.
Extension Study to Study PQ-110-001 (NCT03140969)
Leber Congenital Amaurosis 10Blindness9 moreSubjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future benefits for the subject. Study PQ-110-002 will provide long-term safety, tolerability, pharmacokinetic (PK), and efficacy data of QR-110.