Conditions: Hypophosphatasia
Keywords: Hypophosphatasia HPP Bone Disease Soft Bones Low Alkaline Phosphatase Genetic metabolic disorder Alkaline phosphatase Tissue-specific alkaline phosphatase (TNSALP) Rickets Osteomalacia
Allocation: NA | Intervention model: SINGLE_GROUP
Enrollment: 69
Healthy volunteers: no

Brief summary:
This clinical trial was conducted to study hypophosphatasia (HPP), a bone disorder caused by gene mutations or changes. These gene mutations cause low levels of an enzyme needed to harden bone. The purpose of this study was to test the safety and efficacy of a study drug called asfotase alfa (human recombinant tissue non-specific alkaline phosphate fusion protein) to see what effects it has on patients 5 years of age or less with HPP.

Detailed description:
Asfotase alfa was formerly referred to as ENB-0040

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 limited data available on the natural course of this disease over time, particularly in patients with the juvenile-onset form.

Arms:
arm 1: A total of 6 mg/kg/week of asfotase alfa administered by SC injection (either 1 mg/kg asfotase alfa 6 times per week, or 2 mg/kg asfotase alfa 3 times per week)

Interventions: intervention 1: asfotase alfa
Intervention descriptions: intervention 1: None

Protocol document: