Hypophosphatasia (HPP) is an ultra-rare bone disorder caused by genetic changes in the ALPL gene. This condition is characterized by insufficient development of bones and teeth and is due to a low or absent level of the enzyme required for bone hardening.
Currently, there is a registry collecting observational and standard-of-care data about anyone who has a diagnosis of HPP. Participants do not need to be on treatment to enroll in this registry. Analysis of the collected information may lead to insights that will help physicians learn more about treatment and management for people with HPP.
Damara Ortiz, MD