Skip to main content
OpenTrials
Completed

NCT Number: NCT02104219

Retrospective, Non-interventional 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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Hypophosphatasia (HPP) Avitaminosis Bone Diseases Bone Diseases, Metabolic Calcium Metabolism Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Deficiency Diseases Genetic Diseases, Inborn Hypophosphatasia Malnutrition Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Musculoskeletal Diseases Nutrition Disorders Nutritional and Metabolic Diseases Osteomalacia Rickets Vitamin D Deficiency

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Sydney, Australia

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

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

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

Treatment and study plan

Primary outcomes

  1. 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).

Secondary outcomes

  1. 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.

  2. 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.

Other outcomes

  1. 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).

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Official study title

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

Important dates

Study start
2014
Primary completion
2014
Study completion
2014
First posted
Apr 4, 2014
Registry last updated
Apr 1, 2019

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.

Related clinical trials

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