Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

Hypophosphatasia (HPP) Clinical Trial

Official title:

A Retrospective, Non-interventional, Epidemiologic Study of the Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02104219
• Other study ID #: ALX-HPP-502
• Status: Completed
• Start date: March 2014
• Est. completion date: September 2014

Study information

• Verified date: March 2019
• Source: Alexion Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Other known NCT identifiers

• NCT02104206

Recruitment information / eligibility

• Status: Completed
• Enrollment: 32
• Est. completion date: September 2014
• Est. primary completion date: September 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Hypophosphatasia
• Hypophosphatasia (HPP)

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Alexion Pharmaceuticals

Countries where clinical trial is conducted

United States,  Australia,  Canada,  France,  Netherlands,  Russian Federation,  Turkey,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Rickets Severity Sale - RSS	The RSS is a 10-point scale, developed for nutritional rickets, that evaluates the degree of metaphyseal cupping and fraying and the proportion of growth plate affected (10 points = severe cupping/fraying, 0 points = absence of cupping/fraying).	Any available data during the period of patients' aged 5 to 15 years, inclusive. Baseline is the earliest available assessment value during the period.
Primary	Radiographic Global Impression of Change - RGI-C	The RGI-C scale is a 7-point ordinal scale that is used to evaluate musculoskeletal characteristics of HPP (eg, metaphyseal fraying, demineralization of distal metaphyses). The scores range from -3 (severe worsening) to +3 (complete or near-complete healing).	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	Change in Height Z-score From Baseline to Last Assessment	Height measurements were assigned to Z-scores which were calculated using the Centers for Disease Control and Prevention (CDC) 2000 growth charts and methodology. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.	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.
Secondary	Change in Weight Z-score From Baseline to Last Assessment	Weight measurements were assigned a Z-score which was calculated using the Centers for Disease Control and Prevention (CDC) 2000 growth charts and methodology. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Higher Z-scores indicate a better outcome.	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.

External Links

•   HPP support group
•   Hypophosphatasia Website
•   Hypophosphatasia Website for Health Care Professionals
•   Hypophosphatasie Europe
•   US Hypophosphatasia Group (Soft Bones)
•   Yahoo health group for HPP with an international list serve where patients can correspond and post questions to the group