Clinical Trial: A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
Brief Summary: This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
Detailed Summary: 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.
Sponsor: Alexion Pharma GmbH
Current Primary Outcome: Survival [ Time Frame: Retrospective data collected on or before the data of abstraction. ]
Original Primary Outcome: Survival [ Time Frame: 12 months ]
Current Secondary Outcome: Invasive Ventilator-free Survival Time [ Time Frame: Retrospective data collected on or before the date of abstraction. ]
Original Secondary Outcome: Respiratory status [ Time Frame: 12 months ]
Information By: Alexion Pharma GmbH
Dates:
Date Received: August 16, 2011
Date Started: August 2012
Date Completion:
Last Updated: July 17, 2014
Last Verified: July 2014