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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Alexion Pharma GmbH
ClinicalTrials.gov Identifier:
NCT02104219
First received: March 25, 2014
Last updated: November 16, 2015
Last verified: November 2015
  Purpose
The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-onset HPP.

Condition
Hypophosphatasia (HPP)

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

Resource links provided by NLM:


Further study details as provided by Alexion Pharma GmbH:

Primary Outcome Measures:
  • 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. ] [ Designated as safety issue: No ]
    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 Outcome Measures:
  • 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. ] [ Designated as safety issue: No ]
    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. ] [ Designated as safety issue: No ]
    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 Outcome Measures:
  • 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. ] [ Designated as safety issue: No ]
    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).


Enrollment: 32
Study Start Date: March 2014
Study Completion Date: September 2014
Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
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.
  Eligibility

Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Juvenile-onset HPP (≥ 6 months and ˂18 years)
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02104219

Locations
United States, Georgia
Atlanta, Georgia, United States
United States, Indiana
Indianapolis, Indiana, United States
United States, Massachusetts
Boston, Massachusetts, United States
United States, Missouri
Springfield, Missouri, United States
St. Louis, Missouri, United States
United States, North Carolina
Durham, North Carolina, United States
United States, Ohio
Cincinnati, Ohio, United States
United States, Texas
Houston, Texas, United States
United States, Washington
Seattle, Washington, United States
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
Sponsors and Collaborators
Alexion Pharma GmbH
  More Information

Additional Information:
Responsible Party: Alexion Pharma GmbH
ClinicalTrials.gov Identifier: NCT02104219     History of Changes
Obsolete Identifiers: NCT02104206
Other Study ID Numbers: ALX-HPP-502 
Study First Received: March 25, 2014
Results First Received: August 25, 2015
Last Updated: November 16, 2015
Health Authority: United States: Food and Drug Administration

Keywords provided by Alexion Pharma GmbH:
Hypophosphatasia
HPP
bone disease
Soft Bones
low Alkaline Phosphatase
genetic metabolic disorder
alkaline phosphatase
tissue non-specific alkaline phosphatase
rickets
osteomalacia

Additional relevant MeSH terms:
Hypophosphatasia
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on September 28, 2016