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

Alexion Pharmaceuticals

Status: Completed

Conditions: Hypophosphatasia (HPP)

Study type: Observational

Funder types: Industry

Identifiers

NCT02104219

ALX-HPP-502

Details and patient eligibility

About

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

Full 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.

Enrollment: 32 patients

Sex: All

Ages: 5+ years old

Volunteers: No Healthy Volunteers

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