Results 21 to 30 of about 937 (188)

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry [PDF]

Orphanet Journal of Rare Diseases
Background 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, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M. Dahir   +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 Diseases
Objective 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, Lei Sun, Jing Hu, Qian Zhang, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li   +8 more
doaj   +2 more sources

Mobility and Quality of Life in Children with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement. [PDF]

Adv Ther
Introduction 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 ...
Padidela R, Bishop N, Arundel P, Fang S, Zygouras A, Mughal MZ, Shaw N, Saraff V.   +7 more
europepmc   +3 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., Quinkler, Marcus, Remde, Hanna   +2 more
core   +5 more sources

Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia

Journal of Pediatric Research, 2022
Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening ...
Gönül Çatlı, Berna Eroğlu Filibeli, Handan Çelik, Özlem El, Bumin Dündar   +4 more
doaj   +5 more sources

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort [PDF]

Frontiers in Genetics
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure ...
Afaf Alsagheir, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil, Afnan Alawi, Eissa Faqeih, Abrar Turki Alabdullatif, Doua Al Homyani, Amal AlJohany, Mariam AlOtaibi, Magdy Rabea, Hassan AlSayed, Mohamed H. Al-Hamed   +12 more
doaj   +2 more sources

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study. [PDF]

J Clin Endocrinol Metab, 2019
Context Long-term data on enzyme replacement treatment of hypophosphatasia (HPP) are limited. Objective To evaluate efficacy and safety of asfotase alfa in patients aged ≤5 years with HPP followed for up to 6 years.
Hofmann CE, Harmatz P, Vockley J, Högler W, Nakayama H, Bishop N, Martos-Moreno GÁ, Moseley S, Fujita KP, Liese J, Rockman-Greenberg C, ENB-010-10 Study Group.   +11 more
europepmc   +5 more sources

The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult-Onset Hypophosphatasia. [PDF]

JBMR Plus, 2023
ABSTRACT Hypophosphatasia (HPP) is an inherited disease caused by variants of the ALPL gene encoding tissue‐nonspecific alkaline phosphatase. Adult‐onset HPP (adult HPP), known as a mild form of HPP, develops symptoms involving osteomalacia after the age of 18 years.
Hidaka N, Murata H, Tachikawa K, Osaki K, Sekiyama T, Kinoshita Y, Kato H, Hoshino Y, Kimura S, Sunouchi T, Watanabe S, Nangaku M, Makita N, Michigami T, Ito N.   +14 more
europepmc   +2 more sources

Profile of asfotase alfa in the treatment of hypophosphatasia: design, development, and place in therapy [PDF]

Drug Design, Development and Therapy, 2018
Sasigarn A Bowden,1 Brian L Foster2 1Division of Endocrinology, Department of Pediatrics, Nationwide Children’s Hospital/The Ohio State University College of Medicine, Columbus, OH 43205, USA; 2Division of Biosciences, College of Dentistry, The ...
Bowden SA, Foster BL
doaj   +2 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