Pseudoxanthoma elasticum (inherited or acquired)

This study looks at whether offering personalized follow-up, including video visits, helps more people with pseudoxanthoma elasticum (PXE) get proper care. PXE causes calcium buildup in skin, eyes, and blood vessels, leading to vision loss and other problems. The researchers will…

This study tests a new drug called INZ-701 in up to 16 infants (up to 1 year old) with rare genetic conditions (ENPP1 or ABCC6 deficiency) that cause dangerous calcium buildup in arteries and other problems. The main goal is to check the drug's safety and how the body handles it,…

This study looks at how certain natural chemicals in the body affect blood vessel health in people with pseudoxanthoma elasticum (PXE), a rare genetic disease that causes calcium buildup in tissues. Researchers will measure levels of these chemicals in 45 adults with PXE to bette…

This study looks at whether a special eye scan can detect early blood flow changes in the retina of people with pseudoxanthoma elasticum (PXE), a rare genetic disease that can cause vision loss. Researchers will compare 30 PXE patients with 30 healthy volunteers matched by age an…