Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

March 28, 2019 updated by: Alexion Pharmaceuticals

A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-onset HPP.

Study Overview

Status

Completed

Conditions

Detailed Description

Hypophosphatasia (HPP) is a life-threatening, genetic, and ultra-rare metabolic disease characterized by defective bone mineralization and impaired phosphate and calcium regulation that can lead to progressive damage to multiple vital organs, including destruction and deformity of bones, profound muscle weakness, seizures, impaired renal function, and respiratory failure. There are no approved disease-modifying treatments for patients with this disease. There is also limited data available on the natural course of this disease over time, particularly in patients with the juvenile-onset form.

Study Type

Observational

Enrollment (Actual)

32

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Australia
      • Sydney, Australia
  • Canada
    • Manitoba
      • Winnipeg, Manitoba, Canada
  • France
      • Le Kremlin-Bicêtre, France
      • Paris, France
      • Toulouse, France
  • Netherlands
      • Rotterdam, Netherlands
  • Russian Federation
      • Moscow, Russian Federation
  • Turkey
      • Istanbul, Turkey
  • United Kingdom
      • Manchester, United Kingdom
      • Sheffield, United Kingdom
  • United States
    • Georgia
      • Atlanta, Georgia, United States
    • Indiana
      • Indianapolis, Indiana, United States
    • Massachusetts
      • Boston, Massachusetts, United States
    • Missouri
      • Saint Louis, Missouri, United States
      • Springfield, Missouri, United States
    • North Carolina
      • Durham, North Carolina, United States
    • Ohio
      • Cincinnati, Ohio, United States
    • Texas
      • Houston, Texas, United States
    • Washington
      • Seattle, Washington, United States

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Juvenile-onset HPP (≥ 6 months and ˂18 years)

Description

Inclusion Criteria:

  • Documented informed consent unless patient is deceased
  • Patients with Juvenile-onset HPP, defined as documented onset of first signs/symptoms at ≥ 6 months to ˂18 years
  • Documented diagnosis of HPP as indicated by skeletal manifestations and low alkaline phosphatase or genotyping

Exclusion Criteria:

  • Received treatment with asfotase alfa in the ENB-006-09 study and/or currently enrolled in the ENB-008-10 study
  • Received other treatment and/or intervention to treat HPP up to 15 years old
  • Other clinically significant disease

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Radiographic Global Impression of Change - RGI-C
Time Frame: Between Baseline (earliest available, complete, and readable x-ray set) and all available, readable post-Baseline x-ray sets during the period of patients' aged 5 to 15 years, inclusive.
The RGI-C scale is a 7-point ordinal scale that is used to evaluate musculoskeletal characteristics of HPP (eg, metaphyseal fraying, demineralization of distal metaphyses). The scores range from -3 (severe worsening) to +3 (complete or near-complete healing).
Between Baseline (earliest available, complete, and readable x-ray set) and all available, readable post-Baseline x-ray sets during the period of patients' aged 5 to 15 years, inclusive.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in Height Z-score From Baseline to Last Assessment
Time Frame: Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while post baselines are time points after Baseline during the defined age period.
Height measurements were assigned to Z-scores which were calculated using the Centers for Disease Control and Prevention (CDC) 2000 growth charts and methodology. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.
Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while post baselines are time points after Baseline during the defined age period.
Change in Weight Z-score From Baseline to Last Assessment
Time Frame: Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while Post baselines are time points after Baseline during the defined age period.
Weight measurements were assigned a Z-score which was calculated using the Centers for Disease Control and Prevention (CDC) 2000 growth charts and methodology. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.
Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while Post baselines are time points after Baseline during the defined age period.

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Rickets Severity Sale - RSS
Time Frame: Any available data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment value during the period.
The RSS is a 10-point scale, developed for nutritional rickets, that evaluates the degree of metaphyseal cupping and fraying and the proportion of growth plate affected (10 points = severe cupping/fraying, 0 points = absence of cupping/fraying).
Any available data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment value during the period.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alexion Pharmaceuticals

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2014

Primary Completion (Actual)

September 1, 2014

Study Completion (Actual)

September 1, 2014

Study Registration Dates

First Submitted

March 25, 2014

First Submitted That Met QC Criteria

April 2, 2014

First Posted (Estimate)

April 4, 2014

Study Record Updates

Last Update Posted (Actual)

April 1, 2019

Last Update Submitted That Met QC Criteria

March 28, 2019

Last Verified

March 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ALX-HPP-502

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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