Status:
COMPLETED
A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
Lead Sponsor:
Alexion Pharmaceuticals, Inc.
Conditions:
Hypophosphatasia (HPP)
Eligibility:
All Genders
Brief Summary
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
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 pr...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
August 1 2012
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 1 2014
Estimated Enrollment :
48 Patients enrolled
Trial Details
Trial ID
NCT01419028
Start Date
August 1 2012
End Date
February 1 2014
Last Update
April 1 2019
Active Locations (12)
Enter a location and click search to find clinical trials sorted by distance.
1
Cedars-Sinai Medical Center
Los Angeles, California, United States
2
Indiana University school of medicine
Indianapolis, Indiana, United States, 46202
3
Shriners Hospital for Children
St Louis, Missouri, United States
4
Oregon Health & Science University
Portland, Oregon, United States