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

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.

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Key information

Conditions

Hypophosphatasia Avitaminosis Bone Disease Bone Diseases Bone Diseases, Metabolic Calcium Metabolism Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Deficiency Diseases Genetic Diseases, Inborn Malnutrition Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Musculoskeletal Diseases Nutrition Disorders Nutritional and Metabolic Diseases Osteomalacia Rickets Vitamin D Deficiency

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

St Louis, Missouri, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Retrospective Case Only

Biological

Primary outcomes

Modified Performance-Oriented Mobility Assessment-Gait Subtest (MPOMA-G) - Change From Baseline to Last Overall

Time frame: 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 outcomes

Performance-Oriented Mobility Assessment-Gait Subtest (POMA-G) - Change From Baseline to Last Overall

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Official study title

A Single-Center, Non-interventional Substudy of ALX-HPP-502 to Assess Functional Natural History Data of Patients With Juvenile Historical Controls in ENB-006-09

Important dates

Study start: 2014
Primary completion: 2014
Study completion: 2014
First posted: Sep 10, 2014
Registry last updated: Mar 13, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed