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A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Alexion Pharma International Sarl
ClinicalTrials.gov Identifier:
NCT01419028
First received: August 16, 2011
Last updated: April 10, 2014
Last verified: April 2014
  Purpose

This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.


Condition
Hypophosphatasia (HPP)

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

Resource links provided by NLM:


Further study details as provided by Alexion Pharma International Sarl:

Primary Outcome Measures:
  • Survival [ Time Frame: Duration of time from patient birth to death ] [ Designated as safety issue: No ]
    The primary analysis for the study will be overall survival. Overall survival will be defined as the time from birth to time of death.


Secondary Outcome Measures:
  • Invasive ventilator-free survival time [ Time Frame: The duration of time which patient is alive and not invasively ventilated. ] [ Designated as safety issue: No ]
    The secondary analysis for the study will be invasive ventilator-free survival time, defined as the time during which the patient is alive and not invasively ventilated.


Enrollment: 48
Study Start Date: August 2012
Study Completion Date: February 2014
Primary Completion Date: June 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
Patients with perinatal and/or infantile onset HPP
Patients with a confirmed diagnosis of perinatal or infantile onset hypophosphatasia (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 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with perinatal and/or infantile onset HPP

Criteria

Inclusion Criteria:

  • 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 Criteria:

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

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01419028

Locations
United States, California
Cedars-Sinai Medical Center
LA, California, United States
United States, Indiana
Indiana University school of medicine
Indianapolis, Indiana, United States, 46202
United States, Missouri
Shriners Hospital for Children
St. Louis, Missouri, United States
United States, Oregon
Oregon Health & Science University
Portland, Oregon, United States
United States, Texas
Cook Children's Health Care System
Fort Worth, Texas, United States
Australia
Royal Children's Hospital
Parkville Victoria, Australia
Canada
University of Manitoba Health Sciences Centre
Winnipeg, Canada, MB R3A 1R9
Germany
Universitatsmedizin Mainz, Villa
Mainz, Germany, 55131
Universitätsklinikum Würzburg Kinderklinik, Pädiatrische Infektiologie und Immunologie
Würzburg, Germany, 97080
Spain
Hospital Infantil Universitario Nino Jesus Universidad autonoma de Madrid
Madrid, Spain
Taiwan
National Taiwan University Hospital
Taipei, Taiwan, 10041
United Kingdom
Birmingham Childrens Hospital
Birmingham, United Kingdom
Sponsors and Collaborators
Alexion Pharma International Sarl
Investigators
Principal Investigator: Linda DiMeglio, MD Indiana University School of Medicine
Principal Investigator: Edward Leung, MD University of Manitoba Health Sciences Center
Principal Investigator: William Wilcox, MD Cedars-Sinai Medical Center
Principal Investigator: Joel Steelman, MD Cook Children's Medical Center
Principal Investigator: Robert D Steiner, MD Oregon Health and Science University
Principal Investigator: Michael Whyte, MD Shriners Hospitals for Children
Principal Investigator: Paul Hwu, MD, PhD National Taiwan University Hospital
Principal Investigator: Johannes Liese, MD Universitätsklinikum Würzburg
Principal Investigator: Gabriel Martos, MD Hospital Infantil Universitario Niño Jesús
Principal Investigator: Peter Simm, MD The Royal Children's Hospital Melbourne
Principal Investigator: Andrea Superti-Furga, MD Centre Hospitalier Universitaire Vaudois
Principal Investigator: Jill Simmons, MD Vanderbilt University
  More Information

Additional Information:
No publications provided

Responsible Party: Alexion Pharma International Sarl
ClinicalTrials.gov Identifier: NCT01419028     History of Changes
Other Study ID Numbers: ENB-011-10
Study First Received: August 16, 2011
Last Updated: April 10, 2014
Health Authority: United States: Food and Drug Administration
Canada: Health Canada
Spain: AGENCIA ESPAÑOLA DE MEDICAMENTOS Y PRODUCTOS SANITARIOSAEMPS

Keywords provided by Alexion Pharma International Sarl:
Hypophosphatasia
HPP
Bone disease
Soft bones
Low alkaline phosphatase
Genetic metabolic disorder
Alkaline phosphatase
Tissue non-specific alkaline phosphatase
Rickets
Osteomalacia

Additional relevant MeSH terms:
Hypophosphatasia
Phosphorus Metabolism Disorders
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on April 16, 2014