Registry of Patients With Hypophosphatasia

• Conditions: Hypophosphatasia (HPP)

• Registration Number: NCT02306720
• Lead Sponsor: Alexion Pharmaceuticals, Inc.

Brief Summary

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.

Detailed Description

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

Study Timeline

• Study First Submitted: 2014-11-26
• Study First Submitted QC: 2014-12-01
• Study First Posted: 2014-12-03
• Study Start: 2017-04-02
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-13
• Last Update Posted: 2025-05-15
• Primary Completion: 2031-12-31
• Study Completion: 2031-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 900

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Burden of Disease/Patient-reported Outcomes	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)
Natural History Information	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.
Long-Term Safety and Effectiveness of Asfotase Alfa	1 year	To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa.
Characterize the epidemiology of the HPP population.	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.

Trial Locations

Locations (1)

Research Site; 🇬🇧 Belfast, United Kingdom