Endocrine Abstracts

Hypophosphatasia (HPP) is an inherited skeletal disease characterized by defective bone mineralization due to a deficiency in tissue-nonspecific alkaline phosphatase (TNALP). Patients with the severe infantile form of HPP have a poor prognosis that often results in high mortality by one year. Asfotase alfa is an approved therapy for HPP, while requires chronic injections to maintain efficacy. To develop a one-time gene therapy for HPP, we examined the safety and efficacy of AA...

Objectives: Hypophosphatasia (HPP) is an inborn error of metabolism resulting from loss of function mutations in the tissue-nonspecific alkaline phosphatase (TNAP) gene. Asfotase alfa is an approved enzyme replacement therapy for HPP, while effective, it requires chronic multiple injections up to 6 times per week. We have developed a one-time gene therapy drug (ARU-2801: an adeno-associated viral vector expressing TNAP-D10) for HPP and examined the safety and effica...