Jaeb Center For Health Research

This study follows 44 people with a rare genetic eye condition (PCDH15-related Usher syndrome) over 4 years to measure how their vision changes. No treatment is given. The goal is to understand the disease's natural course so that future clinical trials can test new therapies mor…

This study follows 127 people with USH2A-related retinal degeneration to see how their vision changes over several years. Participants have either Usher syndrome type 2a (with hearing loss) or non-syndromic retinitis pigmentosa. No treatment is given; the goal is to collect data …

This study looks at 300 adults with cystic fibrosis to understand how body composition, muscle strength, and nutrition relate to lung function. Researchers will compare simple tests like grip strength and walking distance to a standard body scan. The goal is to find better ways t…

This study follows 103 adults with retinitis pigmentosa caused by EYS gene mutations over 4 years. Researchers measure vision changes using various eye tests to understand how the disease naturally progresses. The goal is to find better ways to measure outcomes in future treatmen…

This study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…