Jaeb Center for Health Research

RUSH2A

The Jaeb Center for Health Research sponsored the RUSH2A natural history study. 

From Dr. Jacque Duncan, RUSH2A Study Chair: "Natural history studies are important to prepare investigators to design clinical trials. It's essential to know how vision is affected in patients with USH2A mutations in order to determine what to measure and how much change we expect to see over time in order to know whether a potential treatment improves the vision or decreases the rate of vision loss in the long run."

RUSH1F

The Usher 1F Collaborative, a family-founded nonprofit, and the Foundation Fighting Blindness partnered to launch a natural history study, “Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F).” This natural history study will follow 40 individuals with USH1F for four years. Its primary goal is to identify outcome measures in individuals with the PCDH15 mutation, which causes USH1F. These outcome measures can be used in future clinical trials. The study began enrolling participants in May 2021. 

Uni-Rare and USH1B

The Universal Rare Gene Study, also known as Uni-Rare, seeks to recruit a total of 1500 participants with all types of inherited retinal diseases (IRDs), including Usher syndrome. There are two parts to the study, which will be hosted at 40 sites around the world: 

  1. The first part is called a cross-sectional study. A cross-sectional study involves one visit to evaluate a person's genetic data and collect information about their symptoms, results of previous tests, etc. Only those who have already had their inherited retinal disease diagnosis confirmed through genetic testing can be assessed for this screening. Genetic testing will not be offered for this study. All of the data collected through this screening will help researchers to understand the various eye diseases better. This screening will also be used to identify people who qualify to participate in the second part of the study.
  2. The second part of the study is called a natural history study. Right now, this is only being offered to participants whose inherited retinal disease (IRD) is caused by variants in the MYO7A gene (Usher type 1B) or the RDH12 gene (not Usher syndrome). Other gene communities, including other types of Usher syndrome, may be added over time. Participants will be required to have extended annual office visits over four years. 

Jaeb Center for Health Research Science News