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

UniRare

Summary

The Registry will establish genetically and clinically well-characterized cohorts of patients across hundreds of genetic variants associated with retinal dystrophy (RD). Characterization of these patients will accelerate eligibility screening for the Natural History Study, provide cross-sectional data on phenotype-genotype associations, and contribute to our knowledge of pathogenicity of these rare disease-causing variants.

The Natural History Study will accelerate the identification and development of sensitive, reliable outcome measures for clinical trials, which will facilitate development of treatments for retinal dystrophies due to disease-causing genetic variants.

Design

There are two components of this international, multicenter study (approx. 40 sites):

Registry

• A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection

• Enrollment is open to all genes on the RD Rare Gene List

Natural History Study

• A prospective, standardized, longitudinal Natural History Study

• Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment