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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retrospective Case Only |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Retrospective Case Only | Biological |
|
| Measure | Description | Time Frame |
|---|---|---|
| Modified Performance-Oriented Mobility Assessment-Gait Subtest (MPOMA-G) - Change From Baseline to Last Overall | 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. | The earliest available MPOMA-G score that was assessed within the period of patients' aged 5 to 15 years, inclusive. |
| Measure | Description | Time Frame |
|---|---|---|
| Performance-Oriented Mobility Assessment-Gait Subtest (POMA-G) - Change From Baseline to Last Overall | 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. |
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Inclusion Criteria:
Exclusion Criteria:
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Patient has juvenile-onset HPP and was selected as a historical-control for Study ENB-006-09.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| St Louis | Missouri | United States |
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| Label | URL |
|---|---|
| Hypophosphatasia Website | View source |
| Hypophosphatasia Website for Health Care Professionals | View source |
| HPP support group |
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| ID | Title | Description |
|---|---|---|
| FG000 | Retrospective Observational | Patients diagnosed with juvenile-onset hypophosphatasia (HPP) [ie, documented onset of first signs/symptoms of HPP at ≥ 6 months to < 18 years of age]. |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| The earliest available MPOMA-G score that was assessed within the period of patients' aged 5 to 15 years, inclusive. |
| US Hypophosphatasia Group (Soft Bones) | View source |
| COMPLETED |
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| NOT COMPLETED |
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All patients who met all of the inclusion and none of the exclusion criteria were defined as the enrolled population, which was also the analysis population.
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| ID | Title | Description |
|---|---|---|
| BG000 | Retrospective Observational | Patients diagnosed with juvenile-onset hypophosphatasia (HPP) [ie, documented onset of first signs/symptoms of HPP at ≥ 6 months to < 18 years of age]. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Customized | Age at Diagnosis | Mean | Standard Deviation | months |
| |||||||||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
| |||||||||||||||||||||||
| Race/Ethnicity, Customized | Number | participants |
| |||||||||||||||||||||||
| Region of Enrollment | Number | participants |
| |||||||||||||||||||||||
| Modified Performance-Oriented Mobility Assessment - Gait subtest (MPOMA-G) | 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. | Median | Inter-Quartile Range | units on a scale |
| |||||||||||||||||||||
| Deceased/Alive Status - Deceased | Number | participants |
| |||||||||||||||||||||||
| Deceased/Alive Status - Alive | Number | participants |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Modified Performance-Oriented Mobility Assessment-Gait Subtest (MPOMA-G) - Change From Baseline to Last Overall | 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. | Posted | Median | Inter-Quartile Range | units on a scale | The earliest available MPOMA-G score that was assessed within the period of patients' aged 5 to 15 years, inclusive. |
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| Secondary | Performance-Oriented Mobility Assessment-Gait Subtest (POMA-G) - Change From Baseline to Last Overall | 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. | Posted | Median | Inter-Quartile Range | units on a scale | The earliest available MPOMA-G score that was assessed within the period of patients' aged 5 to 15 years, inclusive. |
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No adverse event data were collected during this retrospective noninterventional study.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Retrospective Observational | Patients diagnosed with juvenile-onset hypophosphatasia (HPP) [ie, documented onset of first signs/symptoms of HPP at ≥ 6 months to < 18 years of age]. | 0 | 0 | 0 | 0 |
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Participation in this single-center study involves a commitment to publish the data from the study in a cooperative publication prior to release of study results on an individual basis. Therefore, the PI is subject to certain disclosure and publication limitations.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Senior Medical Director, Clinical Development | Alexion Pharmaceuticals | 203-272-2596 | clinicaltrials@alxn.com |
| ID | Term |
|---|---|
| D007014 | Hypophosphatasia |
| D001847 | Bone Diseases |
| D012279 | Rickets |
| D010018 | Osteomalacia |
| ID | Term |
|---|---|
| D008664 | Metal Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D009140 | Musculoskeletal Diseases |
| D001851 | Bone Diseases, Metabolic |
| D002128 | Calcium Metabolism Disorders |
| D014808 | Vitamin D Deficiency |
| D001361 | Avitaminosis |
| D003677 | Deficiency Diseases |
| D044342 | Malnutrition |
| D009748 | Nutrition Disorders |
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| Superiority or Other |
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