Hypophosphatasia (HPP)NCT01419028
A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
An observational study of Hypophosphatasia (HPP), run by Alexion Pharmaceuticals, Inc. at 12 sites in 7 countries.
Trial summary
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hypophosphatasia (HPP)
- How many people
- 48 participants
- Where
- 12 sitesin 7 countries
- Study dates
- Aug 2012to Feb 2014
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with perinatal and/or infantile onset HPP. Thirty-six patients were invasively ventilated or died, and 12 patients were censored.
Who may be able to join
- 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)
Show all 12Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
12 sites in 7 countries.
12 sites in 7 countries
United States5 sites
Cook Children's Health Care System
Fort Worth, Texas
Indiana University school of medicine
Indianapolis, Indiana, 46202
Cedars-Sinai Medical Center
Los Angeles, California
Oregon Health & Science University
Portland, Oregon
Shriners Hospital for Children
St Louis, Missouri
Germany2 sites
Universitatsmedizin Mainz, Villa
Mainz, 55131
Universitätsklinikum Würzburg Kinderklinik, Pädiatrische Infektiologie und Immunologie
Würzburg, 97080
Canada1 site
University of Manitoba Health Sciences Centre
Winnipeg, MB R3A 1R9
Spain1 site
Hospital Infantil Universitario Nino Jesus Universidad autonoma de Madrid
Madrid
About this study
Official title: A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
Read the 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.
- Conditions
- Hypophosphatasia (HPP)
- Keywords
- Hypophosphatasia, HPP, Bone disease, Soft bones, Low alkaline phosphatase, Genetic metabolic disorder, Alkaline phosphatase, Tissue non-specific alkaline phosphatase, Rickets, Osteomalacia
- Medical subject headings
- Hypophosphatasia, Bone Diseases, Rickets, Osteomalacia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with perinatal and/or infantile onset HPP | Patients with a confirmed diagnosis of perinatal or infantile onset hypophosphatasia (HPP) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Survival
Overall survival is defined as the time from birth to time of death.
Measured: Retrospective data collected on or before the data of abstraction.
Secondary outcomes (1)
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.
Measured: Retrospective data collected on or before the date of abstraction.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Aug 2011 (estimated)
- Study startAug 2012
- Primary completionJun 2013
- Study completionFeb 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Hypophosphatasia (HPP)Studies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01419028
- Sponsor's protocol ID
- ENB-011-10
- Status last verified
- Mar 2019
- First submitted
- 16 Aug 2011
- Last updated
- 1 Apr 2019
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
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.
PubMed 26529632
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective, Non-interventional Epidemiologic Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
- ClinicalTrials.gov ID
- NCT01419028
- Acronym / sponsor ID
- ENB-011-10
- Conditions
- Hypophosphatasia (HPP)
- Keywords
- Hypophosphatasia, HPP, Bone disease, Soft bones, Low alkaline phosphatase, Genetic metabolic disorder, Alkaline phosphatase, Tissue non-specific alkaline phosphatase
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- Aug 2012
- Primary completion
- Jun 2013 (actual)
- Study completion
- Feb 2014 (actual)
- First posted
- 17 Aug 2011 (estimated)
- Results
- Posted 21 Jul 2014
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to characterize the natural history of patients with severe perinatal or infantile onset 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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with perinatal and/or infantile onset HPP | – | –Patients with a confirmed diagnosis of perinatal or infantile onset hypophosphatasia (HPP) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with perinatal and/or infantile onset HPP. Thirty-six patients were invasively ventilated or died, and 12 patients were censored.
Key inclusion criteria (12 listed)
- 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:
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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.
1 secondary outcome
Invasive Ventilator-free Survival Time
Time frame: Retrospective data collected on or before the date of abstraction.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2019.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 26529632Whyte 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.
- Hypophosphatasia WebsiteLink provided by the sponsor.
- Hypophosphatasia Website for Healthcare ProvidersLink provided by the sponsor.
- HPP support groupLink provided by the sponsor.
- US Hypophosphatasia Group (Soft Bones)Link provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
12 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypophosphatasia (HPP), run by Alexion Pharmaceuticals, Inc. at 12 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in United States, Germany, Australia, Canada, Spain and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 21 Jul 2014). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Survival (time frame: Retrospective data collected on or before the data of abstraction.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01419028, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2019.