A Mult-Center, Open-Label Study of the Safety, Tolerability, and Pharmacology of ENB-0040


NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND
Program Type LEND,UCEDD Fiscal Year 2011
Contact Richard Lutz, MD
Email rlutz@unmc.edu    
Phone 402-559-6800    
Project Description
Hypophosphatasia (HPP) is a rare inborn error of bone metabolism caused by inactivating mutations in the gene encoding the TNSALP isoenzyme. With deficiency of TNSALP, there is a buildup of extracellular PPi which inhibits mineralization of bone matrix. This is manifested as rickets in children and osteomalacia in adults.

The infantile form of HPP is particularly serious. It is characterized by severe refractory rickets, non-traumatic fractures, pulmonary compromise and failure to thrive, and mortality is as high as 50%. The occurrence of neonatal seizures is an especially ominous prognostic sign. Treatment of infantile HPP is currently largely symptomatic.

This is a six-month multicenter, open-label study to assess the safety and efficacy of ENB-0040 in patients with severe infantile HPP and a grave prognosis.