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

Hypophosphatasia (HPP) Clinical Trial

Official title:

A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01419028
• Other study ID #: ENB-011-10
• Status: Completed
• Start date: August 2012
• Est. completion date: February 2014

Study information

• Verified date: March 2019
• Source: Alexion Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 48
• Est. completion date: February 2014
• Est. primary completion date: June 2013
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

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

Related Conditions & MeSH terms

• Hypophosphatasia
• Hypophosphatasia (HPP)

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Alexion Pharmaceuticals

Countries where clinical trial is conducted

United States,  Australia,  Canada,  Germany,  Spain,  Taiwan,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Survival	Overall survival is defined as the time from birth to time of death.	Retrospective data collected on or before the data of abstraction.
Secondary	Invasive Ventilator-free Survival Time	Invasive ventilator-free survival is defined as the time during which the patient is alive and not invasively ventilated. For the purpose of this study, invasive ventilation is defined as mechanical ventilation via intubation of trachaeostomy.	Retrospective data collected on or before the date of abstraction.

External Links

•   HPP support group
•   Hypophosphatasia Website
•   Hypophosphatasia Website for Healthcare Providers
•   Hypophosphatasie Europe
•   US Hypophosphatasia Group (Soft Bones)
•   Yahoo health group for HPP with an international list serve where patients can correspond and post questions to the group