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

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Alexion Pharmaceuticals Identifier:
First received: March 25, 2014
Last updated: September 2, 2014
Last verified: September 2014

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

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 Pharmaceuticals:

Primary Outcome Measures:
  • Characterize the natural history of skeletal manifestations and growth in patients with HPP [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    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

Secondary Outcome Measures:
  • Characterize the natural history of growth in patients with HPP [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    Growth information will be collected and change in weight z-scores will be analyzed

Estimated Enrollment: 40
Study Start Date: March 2014
Estimated 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.


Ages Eligible for Study:   5 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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


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 identifier: NCT02104206

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
Sydney, Australia
Canada, Manitoba
Winnipeg, Manitoba, Canada
Le Kremlin-Bicêtre, France
Paris, France
Toulouse, France
Rotterdam, Netherlands
Russian Federation
Moscow, Russian Federation
Istanbul, Turkey
United Kingdom
Manchester, United Kingdom
Sheffield, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals
  More Information

Additional Information:
No publications provided

Responsible Party: Alexion Pharmaceuticals Identifier: NCT02104206     History of Changes
Other Study ID Numbers: ALX-HPP-502
Study First Received: March 25, 2014
Last Updated: September 2, 2014
Health Authority: United States: Food and Drug Administration

Keywords provided by Alexion Pharmaceuticals:
bone disease
Soft Bones
low Alkaline Phosphatase
genetic metabolic disorder
alkaline phosphatase
tissue non-specific alkaline phosphatase

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors processed this record on November 25, 2014