Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

Hypophosphatasia (HPP) is a rare skeletal disease characterized by hypomineralization and low alkaline phosphatase activity. Asfotase alfa (AA) has been recently developed to treat HPP complications. This study evaluated its safety and efficacy in Japan.

[1]  T. Odrljin,et al.  Asfotase alfa therapy for children with hypophosphatasia. , 2016, JCI insight.

[2]  M. Preece,et al.  A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for Hypophosphatasia. , 2016, The Journal of pediatrics.

[3]  M. Whyte Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment , 2016, Nature Reviews Endocrinology.

[4]  N. Bishop,et al.  Transformative therapy in hypophosphatasia , 2016, Archives of Disease in Childhood.

[5]  L. Scott Asfotase Alfa in Perinatal/Infantile-Onset and Juvenile-Onset Hypophosphatasia: A Guide to Its Use in the USA , 2016, BioDrugs.

[6]  N. Bishop,et al.  Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. , 2016, The Journal of clinical endocrinology and metabolism.

[7]  K. Ozono,et al.  Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth , 2016, European Journal of Pediatrics.

[8]  J. Millán,et al.  Alkaline Phosphatase and Hypophosphatasia , 2015, Calcified Tissue International.

[9]  J. Millán,et al.  Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. , 2015, Molecular genetics and metabolism.

[10]  J. Millán,et al.  Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells. , 2015, Human gene therapy.

[11]  D. Wenkert,et al.  Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. , 2015, Bone.

[12]  T. Taketani,et al.  Clinical and genetic aspects of hypophosphatasia in Japanese patients , 2013, Archives of Disease in Childhood.

[13]  Nick Bishop,et al.  Enzyme-replacement therapy in life-threatening hypophosphatasia. , 2012, The New England journal of medicine.

[14]  J. Millán,et al.  Successful gene therapy in utero for lethal murine hypophosphatasia. , 2012, Human gene therapy.

[15]  D. Wenkert,et al.  Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) , 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[16]  K. Ozono,et al.  Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers , 2011, Journal of Human Genetics.

[17]  S. Ikegawa,et al.  Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers , 2011, Journal of Human Genetics.

[18]  E. Mornet Hypophosphatasia , 2007, Orphanet journal of rare diseases.

[19]  S. Mumm,et al.  Adult hypophosphatasia treated with teriparatide. , 2007, The Journal of clinical endocrinology and metabolism.

[20]  T. Uchihashi,et al.  Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia , 2005, European Journal of Pediatrics.

[21]  B. Manaster,et al.  Radiographic scoring method for the assessment of the severity of nutritional rickets. , 2000, Journal of tropical pediatrics.

[22]  K. Ozono,et al.  Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene , 2000, European Journal of Pediatrics.

[23]  K. Ozono,et al.  Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. , 1996, The Journal of clinical endocrinology and metabolism.