Who may be eligible for the Registry of Patients With Hypophosphatasia trial?

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.

ClinicalTrials.gov record NCT02306720

Registry of Patients With Hypophosphatasia

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusEnrolling by invitationThe study enrols only people the study team invites, for example patients already at a particular clinic. It is not open to the public.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexAll

LocationAustralia, Austria, Canada, Colombia, France, Germany, Italy, Poland, Saudi Arabia, Spain, United Kingdom, United States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective, observational long-term registry for people of any age with a diagnosis of hypophosphatasia (HPP). It collects medical history, clinical course, patient-reported outcomes, and epidemiology. For patients who have received or are receiving asfotase alfa, the registry also collects long-term safety and effectiveness data.

What it is studying. The registry aims to learn the natural history and burden of HPP across all ages and classifications, to characterize the HPP population and its epidemiology, to gather age-appropriate patient-reported outcomes (pain, motor capacity, daily function, quality of life), and to collect and evaluate long-term safety and effectiveness data in patients treated with asfotase alfa.

What the researchers hope to learn. To describe the natural history and epidemiology of HPP across pediatric and adult forms; to measure burden of disease and patient-reported outcomes; and to collect long-term safety and effectiveness data for patients who have received asfotase alfa.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

If you join, the study team will collect your medical history and ongoing medical information over time and may review your medical records. You may be asked to complete age‑appropriate questionnaires about pain, mobility, daily activities and quality of life. The registry will record information about treatments (including asfotase alfa) and related safety and effectiveness data. Participation involves regular follow-up over time (target duration listed as up to 5 years).

How the study is structured. A prospective observational registry (case-control model) that follows people with HPP over time with a target duration of 5 years. Sites collect clinical information and age-appropriate patient questionnaires; the registry records disease history, symptoms, and treatment-related safety and effectiveness data.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The registry says participants are enrolled by invitation. Who decides who is invited, and how?
The listed sites are in Australia, Austria, Canada, Colombia, France, Germany, Italy, Poland, Saudi Arabia, Spain, United Kingdom, United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on hypophosphatasia

Clinical trials9 trials listed for hypophosphatasiaEvery trial the registry lists for hypophosphatasia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in hypophosphatasia researchLatest monthly update: September 2026. Includes: Early lab flag. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Jan 20, 2015
Primary completion: Dec 31, 2031 (estimated)
Study completion: Dec 31, 2031 (estimated)
Target enrollment: 1571 participants (estimated)
Last updated on registry: Sep 4, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Alexion Pharmaceuticals, Inc.

Participating sites (66)

Filter by country:

Research Site
Centennial, Colorado, 80112 · United States
Research Site
Hartford, Connecticut, 06106 · United States
Research Site
Tampa, Florida, 33606 · United States
Research Site
Decatur, Georgia, 30033 · United States
Research Site
Baltimore, Maryland, 21287 · United States
Research Site
Boston, Massachusetts, 02111 · United States
Research Site
Boston, Massachusetts, 02115 · United States
Research Site
Minneapolis, Minnesota, 55454 · United States
Research Site
Kansas City, Missouri, 64108 · United States
Research Site
St Louis, Missouri, 63110 · United States

Terms used on this page · explanations by MedicalUpdates.ai

registry: An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
legal representative: A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
assent: A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
clinical trial: A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Enrollment: The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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