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Asfotase alfa

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https://www.readbyqxmd.com/read/29046930/asfotase-alfa-treatment-for-1%C3%A2-year-in-a-16%C3%A2-year-old-male-with-severe-childhood-hypophosphatasia
#1
S A Bowden, B H Adler
We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. The patient was diagnosed with HPP at age 2 years when he presented with genu varum and premature loss of primary teeth. He had a history of multiple fractures requiring 16 orthopedic surgeries with rod and pin placement in his lower extremities. He had chronic skeletal pain and used cane to ambulate with great difficulty. His height Z score at age 15 years was - 5...
October 18, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28888853/monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfa
#2
REVIEW
Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
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, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
September 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28808977/skeletal-dysplasias-what-every-bone-health-clinician-needs-to-know
#3
REVIEW
Sarah M Nikkel
PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia...
October 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28748194/recurrent-metatarsal-fractures-in-postmenopausal-woman-with-low-serum-alkaline-phosphatase-a-rare-diagnosis-not-to-miss
#4
Umair Iqbal, Hafsa Anwar, Ahmad Chaudhary, Madiha Alvi, Amy Freeth
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in the gene for tissue nonspecific isoenzyme of alkaline phosphatase (ALP) that results in low levels of ALP. The clinical presentation of HPP is variable and in adults can easily be misdiagnosed as other forms of osteomalacia. We present a case of a 53-year-old Caucasian female who was evaluated for recurrent metatarsal fractures. She reported her first metatarsal fracture at age 21, and since then had at least 8 more metatarsal fractures over her lifetime, most without injury other than weight bearing...
July 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28731215/hypophosphatasia-in-adults-clinical-assessment-and-treatment-considerations
#5
Jay R Shapiro, E Michael Lewiecki
Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500 to 600 known individuals in the United States. HPP is the result of mutations involving the gene for tissue nonspecific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures...
October 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28374482/safety-and-efficacy-of-treatment-with-asfotase-alfa-in-patients-with-hypophosphatasia-results-from-a-japanese-clinical-trial
#6
Taichi Kitaoka, Toshihiro Tajima, Keisuke Nagasaki, Toru Kikuchi, Katsusuke Yamamoto, Toshimi Michigami, Satoshi Okada, Ikuma Fujiwara, Masayuki Kokaji, Hiroshi Mochizuki, Tsutomu Ogata, Koji Tatebayashi, Atsushi Watanabe, Shuichi Yatsuga, Takuo Kubota, Keiichi Ozono
OBJECTIVE: 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. DESIGN: Open-label, multicentre, prospective trial. Patients were enrolled in 11 hospitals from June 2014 to July 2015. PATIENTS: Thirteen patients (9 females, 4 males) ages 0 days to 34 years at baseline were enrolled and treated with AA (2 mg/kg three times weekly subcutaneously in all but one patient)...
April 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#7
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
September 2017: Bone
https://www.readbyqxmd.com/read/27699270/asfotase-alfa-therapy-for-children-with-hypophosphatasia
#8
Michael P Whyte, Katherine L Madson, Dawn Phillips, Amy L Reeves, William H McAlister, Amy Yakimoski, Karen E Mack, Kim Hamilton, Kori Kagan, Kenji P Fujita, David D Thompson, Scott Moseley, Tatjana Odrljin, Cheryl Rockman-Greenberg
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 mineralization. Children with HPP can manifest rickets, skeletal pain, deformity, fracture, muscle weakness, and premature deciduous tooth loss. Asfotase alfa is a recombinant, bone-targeted, human TNSALP injected s...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27403786/asfotase-alfa-strensiq-for-hypophosphatasia
#9
(no author information available yet)
No abstract text is available yet for this article.
July 18, 2016: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/27376160/asfotase-alfa-enzyme-replacement-for-the-treatment-of-bone-disease-in-hypophosphatasia
#10
REVIEW
C Hofmann, L Seefried, F Jakob
Hypophosphatasia (HPP) is a rare disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNAP, TNSALP) gene. HPP causes a multisystemic syndrome with a predominant bone phenotype. The clinical spectrum ranges from high lethality in early onset (<6 months) HPP to mild late-onset syndromes. HPP management so far has been only supportive. Subcutaneous asfotase alfa, a first-in-class bone-targeted human TNAP enzyme replacement therapy, is the first compound to be approved for long-term treatment of bone manifestations in pediatric-onset HPP...
May 2016: Drugs of Today
https://www.readbyqxmd.com/read/27274262/pathophysiology-of-hypophosphatasia-and-the-potential-role-of-asfotase-alfa
#11
REVIEW
Hideo Orimo
Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone hypomineralization. HPP is classified into six forms according to the age of onset and severity as perinatal (lethal), perinatal benign, infantile, childhood, adult, and odontohypophosphatasia. The causative gene of the disease is the ALPL gene that encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP is expressed ubiquitously, and its physiological role is apparent in bone mineralization. A defect in bone mineralization can manifest in several ways, including rickets or osteomalacia in HPP patients...
2016: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/26893260/hypophosphatasia-aetiology-nosology-pathogenesis-diagnosis-and-treatment
#12
REVIEW
Michael P Whyte
Hypophosphatasia is the inborn error of metabolism characterized by low serum alkaline phosphatase activity (hypophosphatasaemia). This biochemical hallmark reflects loss-of-function mutations within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a cell-surface homodimeric phosphohydrolase that is richly expressed in the skeleton, liver, kidney and developing teeth. In hypophosphatasia, extracellular accumulation of TNSALP natural substrates includes inorganic pyrophosphate, an inhibitor of mineralization, which explains the dento-osseous and arthritic complications featuring tooth loss, rickets or osteomalacia, and calcific arthopathies...
April 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/26832358/asfotase-alfa-in-perinatal-infantile-onset-and-juvenile-onset-hypophosphatasia-a-guide-to-its-use-in-the-usa
#13
REVIEW
Lesley J Scott
Subcutaneous asfotase alfa (Strensiq™), a first-in-class bone-targeted human recombinant tissue-nonspecific alkaline phosphatase (TNSALP) replacement therapy, is approved in the USA for the treatment of patients with perinatal/infantile- or juvenile-onset hypophosphatasia (HPP). In clinical trials, asfotase alfa was an effective and generally well tolerated treatment for perinatal/infantile- and juvenile onset-HPP through at least 3 and 5 years' treatment, respectively. Relative to untreated age-matched, juvenile-onset-HPP historical control cohorts, survival and ventilation-free survival were significantly prolonged in asfotase alfa-treated patients, consequent to preceding improvements in bone mineralization...
February 2016: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
https://www.readbyqxmd.com/read/26529632/asfotase-alfa-treatment-improves-survival-for-perinatal-and-infantile-hypophosphatasia
#14
MULTICENTER STUDY
Michael P Whyte, Cheryl Rockman-Greenberg, Keiichi Ozono, Richard Riese, Scott Moseley, Agustin Melian, David D Thompson, Nicholas Bishop, Christine Hofmann
CONTEXT: 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. OBJECTIVES: 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 severe HPP. DESIGN/SETTING: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study...
January 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26459154/lethal-hypophosphatasia-successfully-treated-with-enzyme-replacement-from-day-1-after-birth
#15
Yoko Okazaki, Hiroyuki Kitajima, Narutaka Mochizuki, Taichi Kitaoka, Toshimi Michigami, Keiichi Ozono
UNLABELLED: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase (TNSALP). There is a broad range of severity in the phenotype of HPP, and the most severe form exhibits perinatal lethality without mineralization of the skeleton. Here, we describe a female infant with perinatal lethal HPP diagnosed in utero. She was treated with a recombinant ALP (asfotase alfa) as an enzyme replacement therapy (ERT), which started from 1 day after birth...
March 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/25959417/enzyme-replacement-for-craniofacial-skeletal-defects-and-craniosynostosis-in-murine-hypophosphatasia
#16
Jin Liu, Cassie Campbell, Hwa Kyung Nam, Alexandre Caron, Manisha C Yadav, José Luis Millán, Nan E Hatch
Hypophosphatasia (HPP) is an inborn-error-of-metabolism disorder characterized by deficient bone and tooth mineralization due to loss-of function mutations in the gene (Alpl) encoding tissue-nonspecific alkaline phosphatase (TNAP). Alpl(-/-) mice exhibit many characteristics seen in infantile HPP including long bone and tooth defects, vitamin B6 responsive seizures and craniosynostosis. Previous reports demonstrated that a mineral-targeted form of TNAP rescues long bone, vertebral and tooth mineralization defects in Alpl(-/-) mice...
September 2015: Bone
https://www.readbyqxmd.com/read/25254037/hypophosphatasia-pathophysiology-and-treatment
#17
José Luis Millán, Horacio Plotkin
Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) in the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNAP). The disease has been classified according to patient age when the first signs and symptoms manifest; i.e., perinatal, infantile, childhood, adult HPP. Other types include odonto HPP and perinatal benign. Babies with the perinatal/infantile forms of HPP often die with severe rickets and respiratory insufficiency and sometimes hypercalcemia and vitamin B6-responsive seizures...
September 1, 2012: Actualizaciones en Osteología
https://www.readbyqxmd.com/read/24134989/hypophosphatasia-enzyme-replacement-therapy-asfotase-alfa-decreases-tnsalp-substrate-accumulation-and-improves-functional-outcomes-in-affected-adolescents-and-adults
#18
M P Whyte, P S Kishnani, C R Greenberg, K Madson, K Mack, T Weber, A Mhanni, H Plotkin, N Kreher, H Landy, Nerissa Kreher
No abstract text is available yet for this article.
2012: Bulletin du Groupèment International Pour la Recherche Scientifique en Stomatologie & Odontologie
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