CABP2 patient registry and natural history study

This study builds a patient registry and tracks the natural history of hearing loss in people whose genetic test shows changes in the otoferlin (OTOF) gene. It may help researchers understand how hearing symptoms progress over time and improve future treatments.

This registry study collects information from people who have a genetic change in the RP2 gene (a cause of inherited eye disease) and their families. It helps researchers learn more about the condition and how it affects daily life.

This study looks at hearing loss that starts in early adulthood (after age 16) and is linked to a specific gene change (GJB2). Researchers want to understand how this type of hearing loss changes over time.

This study follows people and families with autosomal dominant inherited hearing loss to better understand how it progresses. It may help researchers learn what to expect over time and guide future treatment planning.

This study follows children with hearing loss caused by changes in specific genes (GJB2 or OTOF). It helps researchers understand how hearing develops over time and how children may do with or without cochlear implants.

This study is for people with a specific genetic heart condition (PKP2-related arrhythmogenic cardiomyopathy) who already have an ICD. It does not test a new treatment but instead follows participants over time to learn more about the condition.