Scientists map the hidden journey of a rare bone disease

This study aims to better understand how a specific genetic change affects the symptoms and progression of hypophosphatasia (HPP), a rare bone and mineral disorder. Researchers will observe 55 children and adults in Russia who have this genetic variant but are not receiving specific enzyme replacement therapy. The goal is to collect detailed information on when symptoms appear, what body systems are affected, and how the disease impacts daily life and quality of life over time.