Asfotase alfa therapy for children with hypophosphatasia. [PDF]
JCI Insight, 2016 Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of ...
Whyte MP +13 more
europepmc +7 more sources
Mobility and Quality of Life in Children with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement [PDF]
Advances in TherapyIntroduction Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease with a high degree of morbidity and mortality in children. Asfotase alfa is an enzyme replacement therapy for HPP reimbursed in the UK since 2017 under a Managed Access ...
Raja Padidela +2 more
exaly +4 more sources
Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement [PDF]
Advances in TherapyINTRODUCTION: Hypophosphatasia (HPP) is a rare disease caused by deficient tissue-non-specific alkaline phosphatase (ALP) activity. Asfotase alfa is a tissue-non-specific ALP enzyme-replacement therapy which was reimbursed in the UK under a Managed ...
Richard Keen +2 more
exaly +6 more sources
Interference of Asfotase Alfa in Immunoassays Employing Alkaline Phosphatase Technology [PDF]
The Journal of Applied Laboratory Medicine, 2019 Abstract Background Asfotase alfa (STRENSIQ®, Alexion Pharmaceuticals, Inc.) is the only approved treatment for patients with pediatric-onset hypophosphatasia, a disease caused by a mutation in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Piec, Isabelle Danielle +2 more
openaire +5 more sources
Pharmacokinetics of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia. [PDF]
J Clin Pharmacol, 2021 AbstractHypophosphatasia is a rare metabolic disease resulting from variant(s) in the gene‐encoding tissue‐nonspecific isozyme of alkaline phosphatase. In this 13‐week, phase 2a, multicenter, randomized, open‐label, dose‐response study (ClinicalTrials.gov: NCT02797821), the pharmacokinetics of asfotase alfa, an enzyme replacement therapy approved for ...
Pan WJ, Pradhan R, Pelto R, Seefried L.
europepmc +4 more sources
A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation [PDF]
Archives of Endocrinology and Metabolism, 2020 SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization.
Fernanda Salles Reis +3 more
doaj +2 more sources
Medical Management of Hypophosphatasia: Review of Data on Asfotase Alfa. [PDF]
Curr Osteoporos RepAbstract Purpose Hypophosphatasia (HPP) is a rare, dento-osseous disorder caused by impaired activity of tissue non-specific alkaline phosphatase (TNSALP), a key enzyme in tissue mineralization. This review provides a clinical perspective on the current medical treatment of both children and
Dahir KM, Dunbar NS.
europepmc +3 more sources
Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms [PDF]
Frontiers in Endocrinology, 2020 BackgroundHypophosphatasia is a rare bone disease characterized by impaired bone mineralization and low alkaline phosphatase activity. Here, we describe the course of bone-targeted enzyme replacement therapy with asfotase alpha for a female infant ...
Yasuko Fujisawa +5 more
doaj +2 more sources
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase.
Yohei Sugiyama +11 more
doaj +2 more sources