Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09

Completed

• Conditions: Hypophosphatasia; Bone Disease
• Interventions: Biological: Retrospective Case Only

• Registration Number: NCT02235493
• Lead Sponsor: Alexion Pharmaceuticals, Inc.

Brief Summary

The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-onset HPP who served as historical controls in ENB-006-09.

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 Timeline

• Study Start: 2014-08
• Primary Completion: 2014-09
• Study Completion: 2014-09
• Study First Submitted: 2014-09-05
• Study First Submitted QC: 2014-09-09
• Study First Posted: 2014-09-10
• Results First Submitted: 2015-08-25
• Results First Submitted QC: 2015-08-25
• Results First Posted: 2015-09-28
• Status Verified: 2019-03
• Last Update Submitted: 2019-03-11
• Last Update Posted: 2019-03-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 6

Inclusion Criteria

• Documented informed consent/assent prior to video collection and data abstraction.
• Documented informed consent/assent in Study ALX-HPP-502.
• Patients with juvenile-onset HPP and was selected as a historical-control for Study ENB-006-09.
• Patients with at least 2 videos of basic mobility that were recorded at 2 different clinic visits when the patient was ≥5 to ≤15 ye

Exclusion Criteria

• There are no exclusion criteria for this study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Retrospective Case Only	Retrospective Case Only	-

Primary Outcome Measures

Name	Time	Method
Modified Performance-Oriented Mobility Assessment-Gait Subtest (MPOMA-G) - Change From Baseline to Last Overall	The earliest available MPOMA-G score that was assessed within the period of patients' aged 5 to 15 years, inclusive.	The MPOMA-G is a 5-component assessment that is used to evaluate gait performance. The first component has 4 sub-components. For 2 components and 2 sub-components, scores of 0 or 1 are assigned while scores of 0, 1 or 2 are assigned to the rest of the 2 components and 2 sub-components based on type of ambulation pattern observed. The maximum total score of 12 points = no impairment and 0 points = worst impairment.

Secondary Outcome Measures

Name	Time	Method
Performance-Oriented Mobility Assessment-Gait Subtest (POMA-G) - Change From Baseline to Last Overall	The earliest available MPOMA-G score that was assessed within the period of patients' aged 5 to 15 years, inclusive.	The POMA-G is a 7-component assessment that is used to evaluate gait performance. The second component has 4 sub-components. Scores of 0, 1 or 2 are assigned to 2 components while scores of 0 or 1 are assigned to the rest of the 4 components and 4 sub-components based on type of ambulation pattern observed. The maximum total score of 12 points = no impairment and 0 points = worst impairment.