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Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa [PDF]
Molecular Genetics and Metabolism, 2017 Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization ...
Craig Munns, Mark E Nunes, Nick Bishop
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Hypophosphatasia: presentation and response to asfotase alfa
Osteoporosis International, 2023Hypophosphatasia (HPP) is a rare bone disease with limited scientific evidence on the tolerability and safety of its novel treatment, Asfotase Alfa (AA). We report 7 HPP patients' heterogenous presentations and the significant improvement in various clinical outcomes attained with AA shedding light on this highly effective and safe therapy ...
Farah Alsarraf +2 more
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Dental outcomes for children receiving asfotase alfa for hypophosphatasia
Bone, 2021Hypophosphatasia, a genetic disease impeding development of teeth and bones, is associated with premature exfoliation of primary teeth. Hypophosphatasia is caused by mutations in the ALPL gene, which encodes the tissue non-specific form of alkaline phosphatase.
Cheryl Rockman-Greenberg +2 more
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Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia [PDF]
Journal of Clinical Endocrinology and Metabolism, 2016 Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50-100% mortality, typically from respiratory complications.Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with ...
Nick Bishop +2 more
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Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial [PDF]
Lancet Diabetes and Endocrinology,the, 2019 BACKGROUND: Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile hypophosphatasia showed 1 year safety and efficacy of asfotase alfa, an enzyme replacement therapy.
Nick Bishop +2 more
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Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia
Pediatric Neurology, 2022Hypophosphatasia (HPP), an inherited, metabolic disorder caused by loss-of-function mutations in the ALPL gene, affects not only bone and tooth mineralization but also central nervous system (CNS) function, resulting in vitamin B6/pyridoxine-responsive seizures. Asfotase alfa treatment mainly improves the skeletal manifestations of HPP.
Eri Ogawa, Sahoko Miyama
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Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia
Drugs, 2016Hypophosphatasia (HPP) is a rare inheritable disease that results from loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Therapeutic options for treating the underlying pathophysiology of the disease have been lacking, with the mainstay of treatment being management of symptoms and supportive care ...
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Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review
BoneHypophosphatasia (HPP) is a rare genetic disorder characterized by defective bone mineralization, leading to skeletal abnormalities and systemic complications. Asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP) enzyme replacement therapy, has emerged as a promising treatment for HPP.
Amir Human Hoveidaei +2 more
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