A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

Completed

Conditions studied: Hypophosphatasia (HPP)

In brief

This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.

Key facts

Study ID

NCT01419028

Run by

Alexion Pharmaceuticals, Inc.

People needed

48

Starts

2012-08-01

Expected to finish

2014-02-01

Last updated by the study team

2019-04-01

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Parent(s) or legal guardian(s) must provide written informed consent prior to data abstraction, unless all of the following apply:
• The patient is deceased; AND
• The responsible IRB/IEC/REB does not require informed consent per a review of their documented local policies for collecting retrospective data on patients who are deceased; AND
• Written confirmation is received from the responsible IRB/IEC/REB confirming that the abstracted data can be analyzed and used to support regulatory filings by the Sponsor
• Patient must have a documented diagnosis of HPP as indicated by 1 or more of the following:
• Documented ALPL gene mutation(s)
• Serum alkaline phosphatase (ALP) below the age-adjusted normal range and either plasma pyridoxal 5'-phosphate (PLP) or urinary phosphoethanolamine (PEA) above the upper limit of normal
• Serum ALP below the age-adjusted normal range and HPP-related radiographic abnormalities on X-ray
• Patient must have onset of signs of HPP prior to 6 months of age and have documentation of 1 or more of the following characteristics of perinatal and infantile HPP:
• Respiratory compromise (up to and including respiratory failure) requiring institution of respiratory support measure(s), requiring medication(s) for management of symptom(s), and/or associated with other respiratory complications (e.g., pneumonia(s), respiratory tract infection(s))
• Pyridoxine (vitamin B6)-responsive seizures
• Rachitic chest deformity

You may not qualify if…

• Patients will be excluded from study participation if they have 1 or more of the following exclusion criteria:
• Patient received treatment with asfotase alfa at any time prior to data abstraction
• Patient has clinically significant other disease
• Both living and deceased patients will be considered for study participation

Where it is running

• Cedars-Sinai Medical Center — Los Angeles, California, United States
• Indiana University school of medicine — Indianapolis, Indiana, United States
• Shriners Hospital for Children — St Louis, Missouri, United States
• Oregon Health & Science University — Portland, Oregon, United States
• Cook Children's Health Care System — Fort Worth, Texas, United States
• Royal Children's Hospital — Parkville, Australia
• University of Manitoba Health Sciences Centre — Winnipeg, Canada
• Universitatsmedizin Mainz, Villa — Mainz, Germany
• Universitätsklinikum Würzburg Kinderklinik, Pädiatrische Infektiologie und Immunologie — Würzburg, Germany
• Hospital Infantil Universitario Nino Jesus Universidad autonoma de Madrid — Madrid, Spain
• National Taiwan University Hospital — Taipei, Taiwan
• Birmingham Childrens Hospital — Birmingham, United Kingdom

Full record on ClinicalTrials.gov

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