Effectiveness and safety of asfotase alfa for people with hypophosphatasia: a plain language summary of three studies [PDF]
Journal of Comparative Effectiveness ResearchWhat is this summary about? Hypophosphatasia (HPP for short) is a rare inherited condition that can present at any stage of life, with symptoms typically being more severe in cases that manifest earlier, such as during infancy or childhood.
Fatma Al Jasmi, Zhanna Belay
doaj +2 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
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia [PDF]
The Journal of Clinical Endocrinology & 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 ...
Michael P, Whyte +8 more
openaire +4 more sources
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia [PDF]
Journal of the Endocrine Society, 2017 Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization.
Cooper, Mark S. +2 more
core +5 more sources
Physical Function and Health‐Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric‐Onset Hypophosphatasia [PDF]
JBMR Plus, 2020 Hypophosphatasia (HPP) is a rare, inherited, metabolic disease characterized by tissue‐nonspecific alkaline phosphatase deficiency resulting in musculoskeletal and systemic clinical manifestations.
Franca Genest +3 more
doaj +2 more sources
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry [PDF]
Orphanet Journal of Rare DiseasesBackground Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental ...
Priya S. Kishnani +10 more
doaj +2 more sources
Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review [PDF]
Orphanet Journal of Rare DiseasesObjective Hypophosphatasia (HPP) is a rare inherited disorder caused by ALPL gene mutations, with fracture nonunion being a serious complication. This study investigated the effects of teriparatide and asfotase alfa (AA) on femoral fracture healing of an
Songqi Wang +8 more
doaj +2 more sources
A Rare Case of Perinatal Hypophosphatasia Treated With Asfotase Alfa [PDF]
J Endocr Soc, 2021 Abstract Background: Perinatal Hypophosphatasia (HPP) is a rare and lethal disorder associated with a 50–100% mortality rate, usually due to respiratory complications. HPP occurs due to a loss-of-function mutation in the ALPL gene, responsible for the function of tissue-nonspecific alkaline phosphatase (TNSALP).
Srivastava P +4 more
europepmc +3 more sources
ADULT-ONSET HYPOPHOSPHATASIA: BEFORE AND AFTER TREATMENT WITH ASFOTASE ALFA. [PDF]
AACE Clin Case Rep, 2019 To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa.Clinical and laboratory data are presented.This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP ...
Magdaleno AL +4 more
europepmc +5 more sources