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. ]

Overall survival is defined as the time from birth to time of death.


Original Primary Outcome: Survival [ Time Frame: 12 months ]

The primary analysis for the study will be survival, as this is anticipated to be the most readily available information collected as part of this retrospective chart review. The time to death from birth and the proportion of patients alive over time will be assessed.


Current Secondary Outcome: Invasive Ventilator-free Survival Time [ Time Frame: Retrospective data collected on or before the date of abstraction. ]

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.


Original Secondary Outcome: Respiratory status [ Time Frame: 12 months ]

The secondary analysis for the study will be respiratory status, as respiratory failure is the primary cause of death in infants with hypophosphatasia. The time from birth to the time to first ventilator use and the proportion of patients alive and ventilator-free over time will be assessed.


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