Trial Review

Registering a new trial?

To achieve prospective registration, we recommend submitting your trial for registration at the same time as ethics submission.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT01419028




Registration number
NCT01419028
Ethics application status
Date submitted
16/08/2011
Date registered
17/08/2011
Date last updated
1/04/2019

Titles & IDs
Public title
A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
Scientific title
A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
Secondary ID [1] 0 0
ENB-011-10
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Hypophosphatasia (HPP) 0 0
Condition category
Condition code

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Patients with perinatal and/or infantile onset HPP - Patients with a confirmed diagnosis of perinatal or infantile onset hypophosphatasia (HPP)
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Survival
Timepoint [1] 0 0
Retrospective data collected on or before the data of abstraction.
Secondary outcome [1] 0 0
Invasive Ventilator-free Survival Time
Timepoint [1] 0 0
Retrospective data collected on or before the date of abstraction.

Eligibility
Key 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
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key 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
Purpose
Duration
Selection
Timing
Retrospective
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/08/2012
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
1/02/2014
Sample size
Target
Accrual to date
Final
48
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Royal Children's Hospital - Parkville
Recruitment postcode(s) [1] 0 0
- Parkville
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Indiana
Country [3] 0 0
United States of America
State/province [3] 0 0
Missouri
Country [4] 0 0
United States of America
State/province [4] 0 0
Oregon
Country [5] 0 0
United States of America
State/province [5] 0 0
Texas
Country [6] 0 0
Canada
State/province [6] 0 0
Winnipeg
Country [7] 0 0
Germany
State/province [7] 0 0
Mainz
Country [8] 0 0
Germany
State/province [8] 0 0
Würzburg
Country [9] 0 0
Spain
State/province [9] 0 0
Madrid
Country [10] 0 0
Taiwan
State/province [10] 0 0
Taipei
Country [11] 0 0
United Kingdom
State/province [11] 0 0
Birmingham

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Alexion Pharmaceuticals, Inc.
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
Trial website
https://clinicaltrials.gov/study/NCT01419028
Trial related presentations / publications
Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, Thompson DD, Bishop N, Hofmann C. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2016 Jan;101(1):334-42. doi: 10.1210/jc.2015-3462. Epub 2015 Nov 3.
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT01419028