Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01419028
Other study ID # ENB-011-10
Secondary ID
Status Completed
Phase
First received
Last updated
Start date August 2012
Est. completion date February 2014

Study information

Verified date March 2019
Source Alexion Pharmaceuticals
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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


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.


Recruitment information / eligibility

Status Completed
Enrollment 48
Est. completion date February 2014
Est. primary completion date June 2013
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
Australia Royal Children's Hospital Parkville
Canada University of Manitoba Health Sciences Centre Winnipeg
Germany Universitatsmedizin Mainz, Villa Mainz
Germany Universitätsklinikum Würzburg Kinderklinik, Pädiatrische Infektiologie und Immunologie Würzburg
Spain Hospital Infantil Universitario Nino Jesus Universidad autonoma de Madrid Madrid
Taiwan National Taiwan University Hospital Taipei
United Kingdom Birmingham Childrens Hospital Birmingham
United States Cook Children's Health Care System Fort Worth Texas
United States Indiana University school of medicine Indianapolis Indiana
United States Cedars-Sinai Medical Center Los Angeles California
United States Oregon Health & Science University Portland Oregon
United States Shriners Hospital for Children Saint Louis Missouri

Sponsors (1)

Lead Sponsor Collaborator
Alexion Pharmaceuticals

Countries where clinical trial is conducted

United States,  Australia,  Canada,  Germany,  Spain,  Taiwan,  United Kingdom, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 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. Retrospective data collected on or before the date of abstraction.
See also
  Status Clinical Trial Phase
Completed NCT00952484 - Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP) Phase 2
Completed NCT00744042 - Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP) Phase 1/Phase 2
Active, not recruiting NCT04181164 - Evaluation of Bone Architecture and Bone Strength in Adults With Hypophosphatasia (HPP)
Completed NCT02104219 - Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)
Completed NCT00739505 - Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Phase 1
Completed NCT01203826 - Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP) Phase 2
Enrolling by invitation NCT02306720 - Registry of Patients With Hypophosphatasia