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

Conditions: genetic eye disease
retinal dystrphy
10015920
10010463

Registration Number: NL-OMON56829

Lead Sponsor: JAEB Center For Health Research

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 40

Inclusion Criteria

• Have retinal degeneration
• Have one or more mutations in one of your genes that is the cause of your
retinal degeneration
• Be willing and able to give consent
• Be willing to have annual study phone calls over four years
• Have eyes in which photographic imaging is possible
• Be at least 4 years old

Exclusion Criteria

• Have a history of treatment that could have affected the retina
• Have a history of certain eye conditions or surgeries that may affect the
tests for this study

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The list of candidate endpoints to measure and understand IRD progression is<br /><br>vast. Visual function outcomes, such as visual acuity (VA), contrast<br /><br>sensitivity, color vision, microperimetry (MP), full-field stimulus threshold<br /><br>(FST) and full-field electroretinogram (ffERG), measure performance of the<br /><br>components of the visual system in the clinical environment and represent the<br /><br>measures of what is clinically meaningful. Structural or anatomical measures,<br /><br>such as fundus autofluorescence (FAF) and optical coherence tomography (OCT),<br /><br>represent candidate biomarkers or surrogate endpoints that hold the potential<br /><br>to predict clinical benefit. Structural measures are an expanding area of IRD<br /><br>research due to new technologies and better imaging acquisition and<br /><br>interpretation techniques and is an area of priority identified by gap<br /><br>analyses. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Functional vision measures, which are designed to reflect real-life challenges<br /><br>in daily activities, include patient-reported outcomes. Although a variety of<br /><br>tools exist, little is known about their applicability within each genotype.</p><br>