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Creation of disease model systems to understand and correct genetic diseases through gene or other therapy using iPS cells derived from somatic cells: *the iPS study*
Addendum A: "Informatie voor proefpersonen en bijbehorend toestemmingsformulier voor de vervaardiging en het gebruik van geïnduceerde Pluripotente Stamcellen (iPS cellen) voor patiënten met een cardiovasculaire aandoening."

Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…

Perceptual learning to reduce crowding in visually impaired children: 'Learning to see the forest ánd the trees'

The main goal of this study is to investigate whether visual perceptual learning, i.e. practicing a challenging visual task and thereby improving performance, transfers to improved reading and search performance in children with visual impairment.…

Partial endothelial trepanation in addition to deep anterior lamellar keratoplasty in keratoconus patients. A randomized clinical trial.

To investigate the additional value of partial endothelial trepanation (PET) in a deep anterior lamellar keratoplasty (DALK) procedure in terms of efficacy and safety in patients with keratoconus.

DNA diagnostics in Congenital Stationary Nightblindness (CSNB).

The purpose of this study is to investigate the genotype of a large group of CSNB patients for which the phenotype is already known. We hope to increase our understanding of CSNB in order to improve diagnosis, to offer more realistic prognoses and…

Functional Retinal Imaging of Inherited Retinal Diseases

The goal of this study is the development of a clinically verified functional imaging technique of the retina.

Long-term clinical follow-up study of patients and families with choroideremia for future clinical trials

The purpose of this study is to collect and complement long-term clinical follow-up data from patients and families with choroideremia. We hope to increase our understanding of the clinical course of choroideremia.

Differentiating characteristics of autism and visual impairment in people with intellectual disabilities and deafblindness.

Extent the current instrument for assessing autism in deafblind individuals with profound intellectual disability by Hoevenaars-van den Boom et al. (2008; 2009) to a protocol with manual for assessing autism in people with visual impairments, less…

Long-term effects of the crowding training and transfer to untrained tasks

• Determine to which extent near visual acuity and crowding improvements are retained at 6 and 12 months after training • Determine transfer of training effects to untrained tasks, in this case reading and fine motor performance.

A Phase 2, Randomized Placebo-Controlled, Double-Masked Study to Assess Safety and Efficacy of Multiple doses of IONIS-FB-LRX, an Antisense Inhibitor of Complement Factor B, in Patients with Geographic Atrophy Secondary to Age-Related Macular Degeneration (AMD)

To evaluate the effect of ISIS 696844 on the rate of change of the area of GA secondary to AMD measured by fundus autofluorescence (FAF)

Phase 3 Randomized, Controlled Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated with Variants in the RPGR gene

Primary:To assess the effect of bilateral treatment with AAV5-hRKp.RPGR on functional vision as measured by vision-guided mobility assessment.Secondary:To assess changes after treatment administration in retinal function, functional vision, visual…

Prospective study on safety and efficacy of gene therapy with voretigene neparvovec (Luxturna®) in patients with RPE65-associated inherited retinal degenerations

To collect long-term, real world data on safety and efficacy of gene therapy with voretigene neparvovec (Luxturna®).

Universal Rare Gene Study: A Registry and Natural History
Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants

IRDs are genetically diverse (280 causative genes have been identified to date) (https://sph.uth.edu/retnet/) and have vastly different clinical manifestations, including age of onset, severity of disease, rate of progression, and structural and…

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

Primary: To evaluate the efficacy of QR-110 administered by intravitreal (IVT) injection.Secondary:1. To evaluate the safety and tolerability of QR-110 administered via IVT injection.2. To evaluate changes in patient-reported outcome (PRO) measures…

Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated with Variants in the RPGR gene

This study has been transitioned to CTIS with ID 2024-511411-25-00 check the CTIS register for the current data. Main objective:To assess the long-term safety and tolerability of AAV5-hRKp.RPGR in individuals with RPGR-XLRPTo assess the long-term…

A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects with Retinitis Pigmentosa (RP) due to Mutations in Exon 13 of the USH2A Gene with Advanced Vision Loss

Primary • To evaluate the efficacy of QR-421aSecondary• To evaluate the safety and tolerability of QR-421a • To evaluate changes in Patient-Reported Outcome (PRO) measures in subjects treated with QR-421a• To evaluate systemic exposure of QR-421a

Rate of Progression in EYS Related Retinal Degeneration

1. To report the natural history of retinal degeneration in patients with biallelic mutations in the EYS gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal…

*Project *PLING*: development of a home-based app which uses Perceptual Learning to improve vison in children with Infantile NystaGmus*

The first goal of the PLING-project is to improve the clinical applicability of the training by developing a home-based app that can be on any Windows or Mac system. The second goal is to optimize training gain by: 1) increasing the number of…

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)

1. To report the natural history of retinal degenaration in patients with biallelic mutations in the PCDH15 gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in PCDH15-related…

Study to Evaluate the Feasibility and Variability of Select Vision Assessments in Subjects with a Leber's Congenital Amaurosis (LCA) Type Phenotype

PQ-110-004, is designed to evaluate if a mobility course using multiple light levels simulating real world conditions, can detect changes in vision in subjects with a phenotype representative of LCA Type 10 and therefore serves as an assessment tool…