Inozyme Pharma

This study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better u…

This study follows children aged 2 to 18 with confirmed ENPP1 deficiency or early-onset ABCC6 deficiency to understand how these rare diseases progress. Researchers will measure blood markers, check for calcification in arteries and organs, and track bone health and movement over…