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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

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

Detailed Summary: 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.
Sponsor: Alexion Pharma GmbH

Current Primary Outcome: 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).


Original Primary Outcome: Characterize the natural history of skeletal manifestations and growth in patients with HPP [ Time Frame: 10 years ]

Pairs of x-rays will be reviewed for severity and change over time. Growth information will be collected and change in height z-score will be analyzed


Current Secondary Outcome:

  • 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.
  • 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.


Original Secondary Outcome: Characterize the natural history of growth in patients with HPP [ Time Frame: 10 years ]

Growth information will be collected and change in weight z-scores will be analyzed


Information By: Alexion Pharma GmbH

Dates:
Date Received: March 25, 2014
Date Started: March 2014
Date Completion:
Last Updated: November 16, 2015
Last Verified: November 2015