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An Open-Label, Multicenter, Multinational Study of the Safety, Efficacy and Pharmacokinetics of Asfotase alfa (human recombinant tissue nonspecific alkaline phosphatase fusion protein) in Infants and Children =5 Years of Age with Hypophosphatasia (HPP)

Phase 1
Conditions
Hypophosphatasia is a rare inborn error of bone metabolism caused by inactivating mutations in the gene encoding the Tissue-nonspecific alkaline phosphatase isoenzyme. With deficiency of Tissue-nonspecific alkaline phosphatase, there is a buildup of extracellular inorganic pyrophosphate, which inhibits mineralization of bone matrix.
MedDRA version: 20.0Level: PTClassification code 10049933Term: HypophosphatasiaSystem Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Body processes [G] - Genetic Phenomena [G05]
Registration Number
EUCTR2010-019850-42-DE
Lead Sponsor
Alexion Pharma GmbH
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Recruiting
Sex
All
Target Recruitment
100
Inclusion Criteria

Patients must meet all of the following criteria for enrollment in this study:
- Parent or legal guardian(s) must provide written informed consent prior to any study procedures being performed and must be willing to comply with all study-related procedures. If the minor is in a position to comprehend the nature, significance, and implications of the clinical trial and to form a rational intention in the light of these facts, then he/she must provide his/her assent prior to any study procedures being performed.
- Documented diagnosis of HPP as indicated by:
o Total serum alkaline phosphatase (ALP) below the lower limit of normal for age
o Plasma PLP above the upper limit of normal (unless patient is receiving pyridoxine for seizures)
o Radiographic evidence of HPP at screening, characterized by:
* Flared and frayed metaphyses and
* Severe, generalized osteopenia and
* Widened growth plates and
* Areas of radiolucency or sclerosis
o Two or more of the following HPP-related findings:
* History or presence of:
+ Nontraumatic post-natal fracture
+ Delayed fracture healing
* Nephrocalcinosis or history of elevated serum calcium
* Functional craniosynostosis
* Respiratory compromise or rachitic chest deformity
* Vitamin B6-dependent seizures
* Failure to thrive
- Onset of symptoms prior to 6 months of age
- Chronological age of = 5 years or adjusted age for premature infants born = 37 weeks gestation
- Otherwise medically stable in the opinion of the Investigator and/or Sponsor
Are the trial subjects under 18? yes
Number of subjects for this age range: 100
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Patients will be excluded from enrollment in this study if they meet any of the following exclusion criteria:
- Clinically significant disease, such as, but not limited to, hepatitis C virus (HCV) / human immunodeficiency virus (HIV) / hepatitis B virus (HBV), that precludes study participation, in the opinion of the Investigator and/or Sponsor
- Serum calcium or phosphate levels below the normal range
- Serum 25-hydroxy (25[OH]) vitamin D below 20 ng/mL
- Current evidence of treatable form of rickets
- Prior treatment with bisphosphonates
- Treatment with an investigational drug within 1 month prior to the start of Asfotase alfa treatment
- Current enrollment in any other study involving an investigational new drug, device, or treatment for HPP (e.g., bone marrow transplantation)
- Intolerance to the study drug or any of its excipients
- Previous participation in the same study
- Close relation to the Investigator

Study & Design

Study Type
Interventional clinical trial of medicinal product
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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