Hypophosphatasia (HPP), an inborn-error-of-metabolism, has broad-ranging severity caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase (TNSALP). HPP in children features premature loss of deciduous teeth often with impaired skeletal mineralization, poor growth, static myopathy, and compromised physical function. To date there are no approved treatments for HPP. Perinatal and infantile forms have very high morbidity and mortality and the juvenile and adult forms also often cause very debilitating disease. Asfotase alfa (bone-targeted recombinant human TNSALP) is in clinical development for treatment of HPP. In a series of clinical trials in progress since 2007, infants and children with HPP treated with asfotase alfa have shown significant improvement in radiologic signs of HPP, respiratory function, survival, gross motor function, and stamina in follow-up now through 3 years of treatment, with no serious adverse events reported by Investigators as definitively related to the drug. Results of trials to date will be presented highlighting the promise that ERT will change the natural history of this bone disorder.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology