Hypophosphatasia (HPP) Registry

Long-term Registry of Patients with Hypophosphatasia

Protocol Description

Through this study, researchers will be collecting data about hypophosphatasia (HPP), an ultra-rare bone disorder caused by gene mutations or changes. The condition leads to low or absent levels of the enzyme required for bone hardening. The study collects observational and standard-of-care data, but does not involve any treatment or administration of medication for HPP. Analysis of the collected information may lead to insights that will help physicians learn more about treating people with the condition.

Eligibility Criteria

Subject to exclusion criteria, the study is accepting patients of both genders and of all ages who have a confirmed diagnosis of HPP.
Males and Females: All ages


With consent, physicians will provide medical history information, lab results and imaging reports about their enrolled patients. Parents/guardians or participants will complete health/quality-of-life questionnaires at the start of the study, every three months during the first year, and every six months for the remainder of the study. These can be completed during routine doctor appointments or at home.
Visits: None beyond normal clinical care
Duration: At least 5 years

Status: Enrolling by Invitation

Source(s) of Support

Alexion Pharmaceuticals

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Daniele Black, BS