This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
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.
Study Type
OBSERVATIONAL
Enrollment
48
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
Survival
Overall survival is defined as the time from birth to time of death.
Time frame: Retrospective data collected on or before the data of abstraction.
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.
Time frame: Retrospective data collected on or before the date of abstraction.
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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
...and 2 more locations