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

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT01419028
• Date of registration: 16/08/2011
• Prospective Registration: Yes
• Primary sponsor: Alexion Pharmaceuticals
• 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)
• Date of first enrolment: August 2012
• Target sample size: 48
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT01419028
• Study type: Observational

Countries of recruitment

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

Key inclusion & exclusion 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



Age minimum: N/A
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Hypophosphatasia (HPP)

Primary Outcome(s)

Survival [Time Frame: Retrospective data collected on or before the data of abstraction.]

Secondary Outcome(s)

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

Secondary ID(s)

ENB-011-10

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Results

• Results available: Yes
• Date Posted: 21/07/2014
• URL: https://clinicaltrials.gov/ct2/show/results/NCT01419028