Registry of Patients With Hypophosphatasia

In this prospective, observational, long term registry patients of all ages with a diagnosis of hypophosphatasia (HPP) are followed at participating sites in multiple countries.

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Hypophosphatasia (HPP) Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hypophosphatasia Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Research Site, Clayton, Victoria, Australia

About this study

The HPP Registry is an observational, prospective, long-term registry designed to collect data on HPP epidemiology, disease history, clinical course, symptoms and burden of disease from patients of all ages who have a diagnosis of HPP.

Evaluation of safety and effectiveness data in patients with HPP who have/are receiving treatment with Asfotase alfa

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Male and female participants, of any age, with a confirmed diagnosis of HPP.
Participant must have documented alkaline phosphatase (ALP) activity below the lower limit of normal for age and sex, or a documented ALPL gene mutation.
Participant or legal representative is able to read and/or understand the informed consent and study questionnaires in the local language.
Signed informed consent and medical records release by the patient or legal representative. Patient or patient's parent/legal representative must be willing and able to give written informed consent, and the patient must be willing to give written informed assent, if appropriate and required by local regulations.

Exclusion criteria

Currently participating in an Alexion-sponsored clinical trial. Enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial.

Treatment and study plan

Primary outcomes

Natural History Information

Time frame: 1 Year

To collect information on the natural history of HPP from patients of all ages, including pediatric patients and adults with HPP, regardless of age at onset.
Burden of Disease/Patient-reported Outcomes

Time frame: 1 year

Age-appropriate PRO data will be collected using instruments to asses below: Pain, Motor Capacity, Functional Status/Disability, including Activities of Daily Living (ADL), Quality of Life (QoL)
Characterize the epidemiology of the HPP population.

Time frame: 1 year

To characterize the epidemiology of the HPP population. Inclusion of all classifications of HPP is planned: pediatric-onset (perinatal-, infantile-, and juvenile-onset), adult-onset, benign perinatal, and odontohypophosphatasia.
Long-Term Safety and Effectiveness of Asfotase Alfa

Time frame: 1 year

To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa.

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Official study title

An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)

Important dates

Study start: 2015
Primary completion: 2031
Study completion: 2031
First posted: Dec 3, 2014
Registry last updated: Feb 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting