A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
1 other identifier
observational
48
7 countries
12
Brief Summary
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Aug 2012
12 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 16, 2011
CompletedFirst Posted
Study publicly available on registry
August 17, 2011
CompletedStudy Start
First participant enrolled
August 1, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 1, 2013
CompletedStudy Completion
Last participant's last visit for all outcomes
February 1, 2014
CompletedResults Posted
Study results publicly available
July 21, 2014
CompletedApril 1, 2019
March 1, 2019
10 months
August 16, 2011
June 11, 2014
March 28, 2019
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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 Outcomes (1)
Invasive Ventilator-free Survival Time
Retrospective data collected on or before the date of abstraction.
Study Arms (1)
Patients with perinatal and/or infantile onset HPP
Patients with a confirmed diagnosis of perinatal or infantile onset hypophosphatasia (HPP)
Eligibility Criteria
Patients with perinatal and/or infantile onset HPP. Thirty-six patients were invasively ventilated or died, and 12 patients were censored.
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:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (12)
Cedars-Sinai Medical Center
Los Angeles, California, United States
Indiana University school of medicine
Indianapolis, Indiana, 46202, 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, MB R3A 1R9, Canada
Universitatsmedizin Mainz, Villa
Mainz, 55131, Germany
Universitätsklinikum Würzburg Kinderklinik, Pädiatrische Infektiologie und Immunologie
Würzburg, 97080, Germany
Hospital Infantil Universitario Nino Jesus Universidad autonoma de Madrid
Madrid, Spain
National Taiwan University Hospital
Taipei, 10041, Taiwan
Birmingham Childrens Hospital
Birmingham, United Kingdom
Related Publications (1)
Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, Thompson DD, Bishop N, Hofmann C. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2016 Jan;101(1):334-42. doi: 10.1210/jc.2015-3462. Epub 2015 Nov 3.
PMID: 26529632DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Limitations and Caveats
This was an observational study and, as such, serious and/or other \[non-serious\] adverse events were not collected/assessed.
Results Point of Contact
- Title
- Alexion Pharmaceuticals
- Organization
- Alexion International Sarl
Publication Agreements
- PI is Sponsor Employee
- No
- Restriction Type
- OTHER
- Restrictive Agreement
- Yes
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 16, 2011
First Posted
August 17, 2011
Study Start
August 1, 2012
Primary Completion
June 1, 2013
Study Completion
February 1, 2014
Last Updated
April 1, 2019
Results First Posted
July 21, 2014
Record last verified: 2019-03