Clinical trial NCT02104219: Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)
Official title: A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: Alexion Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2014-04-04
Enrollment: 32
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Juvenile-onset HPP (≥ 6 months and ˂18 years)

Brief summary: The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-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.

Eligibility criteria: Inclusion Criteria:

* Documented informed consent unless patient is deceased
* Patients with Juvenile-onset HPP, defined as documented onset of first signs/symptoms at ≥ 6 months to ˂18 years
* Documented diagnosis of HPP as indicated by skeletal manifestations and low alkaline phosphatase or genotyping

Exclusion Criteria:

* Received treatment with asfotase alfa in the ENB-006-09 study and/or currently enrolled in the ENB-008-10 study
* Received other treatment and/or intervention to treat HPP up to 15 years old
* Other clinically significant disease

Primary outcomes:
measure: Radiographic Global Impression of Change - RGI-C
timeFrame: Between Baseline (earliest available, complete, and readable x-ray set) and all available, readable post-Baseline x-ray sets during the period of patients' aged 5 to 15 years, inclusive.
Secondary outcomes:
measure: Change in Height Z-score From Baseline to Last Assessment
timeFrame: Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while post baselines are time points after Baseline during the defined age period.
measure: Change in Weight Z-score From Baseline to Last Assessment
timeFrame: Any available growth data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment while Post baselines are time points after Baseline during the defined age period.
Other outcomes:
measure: Rickets Severity Sale - RSS
timeFrame: Any available data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment value during the period.
Locations:
city: Atlanta
country: United States
state: Georgia
city: Indianapolis
country: United States
state: Indiana
city: Boston
country: United States
state: Massachusetts
city: Saint Louis
country: United States
state: Missouri
city: Springfield
country: United States
state: Missouri
city: Durham
country: United States
state: North Carolina
city: Cincinnati
country: United States
state: Ohio
city: Houston
country: United States
state: Texas
city: Seattle
country: United States
state: Washington
city: Sydney
country: Australia
city: Winnipeg
country: Canada
state: Manitoba
city: Le Kremlin-Bicêtre
country: France
city: Paris
country: France
city: Toulouse
country: France
city: Rotterdam
country: Netherlands
city: Moscow
country: Russian Federation
city: Istanbul
country: Turkey
city: Manchester
country: United Kingdom
city: Sheffield
country: United Kingdom
Study officials:
References: