Disorder of plasmalogens biosynthesis

This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…

This study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…