Study for people with TRPM3 gene changes

This study aims to learn more about health problems caused by changes in the TNPO2 gene. It is a natural history study that will collect information to help understand and care for people with these rare genetic conditions.

This study looks at the natural history of TRPV4-related neuropathy—how it starts and changes over time. It may help doctors better understand the condition, especially for people with TRPV4 gene changes.

This is an observational study (no study drug) for people with transthyretin (TTR)–mediated amyloidosis, including people who carry certain gene changes before symptoms begin. It may help researchers better understand how the disease affects health over time and what to measure in future treatments.

This study follows people who have a specific change (mutation) in the PRSS1 gene. The goal is to learn more about how this gene change affects health over time, which could help with future care.

This study looks at people who carry certain TTR gene variants, which can cause a specific type of heart amyloid buildup. It also includes people with symptoms, to understand how the condition develops and how it may be monitored.

This study is observing people with amyloidosis or those who carry a specific gene mutation (transthyretin) to learn more about the condition. It does not test any new treatment, but may help researchers understand how the disease affects people.