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(asfotase alfa)
87 results
  • Burden of Illness in Adults with Hypophosphatasia: Data from the Global Hypophosphatasia Patient Registry. [Journal Article]
    J Bone Miner Res. 2020 Jul 12 [Online ahead of print]Seefried L, Dahir K, … Kishnani PS
  • Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by deficient tissue non-specific alkaline phosphatase activity. This study aims to assess patient-reported pain, disability and health-related quality of life (HRQoL) in a real-world cohort of adults with HPP who were not receiving asfotase alfa during the analysis. Adults (≥18 years old) with HPP (confirmed by ALPL gene mutati…
  • Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia. [Journal Article]
    Mol Genet Metab Rep. 2020 Sep; 24:100612.Chida-Naomiya R, Shimura M, … Kawashima H
  • Hearing impairment is a neurological symptom of hypophosphatasia (HPP), which leads to a reduced quality of life. However, the pathomechanism of hearing impairment and the effects of asfotase alfa enzyme replacement therapy on hearing function in HPP have not been clarified. Here we report a case and present clinical data of a patient with perinatal HPP whose hearing impairment improved after asf…
  • Pharmacotherapy in Rare Skeletal Diseases. [Journal Article]
    Handb Exp Pharmacol. 2020 Jun 10 [Online ahead of print]Hoyer-Kuhn H, Schönau E
  • New therapeutic approaches have been established in the field of rare skeletal diseases (e.g., for osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia, and fibrodysplasia ossificans progressiva). After elucidation of the underlying genotypes and pathophysiologic alterations of these diseases, new treatment options have been designed. Most drugs are based on an inte…
  • Visualization of Mineral-Targeted Alkaline Phosphatase Binding to Sites of Calcification In Vivo. [Journal Article]
    J Bone Miner Res. 2020 Apr 28 [Online ahead of print]Amadeu de Oliveira F, Narisawa S, … Millán JL
  • A mineral-targeted form of recombinant tissue-nonspecific alkaline phosphatase (TNAP), asfotase alfa, was approved multinationally as an enzyme replacement therapy for hypophosphatasia in 2015. Two reports to date have shown evidence of binding of this drug to mineralizing tissues using histochemistry and immunohistochemistry. Here, we sought to expand on those earlier studies by directly visuali…
  • Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy. [Review]
    Clin Biochem Rev. 2020 Feb; 41(1):13-27.Salles JP
  • Hypophosphatasia (HPP) is a rare inherited systemic metabolic disease caused by mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP is expressed in the liver, kidney and bone, and its substrates include TNSALP inorganic pyrophosphate, pyridoxal-5'-phosphate (PLP)/vitamin B6 and phosphoethanolamine (PEA). Autosomal recessive and dominant forms of the disease result in a …
  • Treatment of hypophosphatasia. [Journal Article]
    Wien Med Wochenschr. 2020 Apr; 170(5-6):112-115.Simon S, Resch H
  • Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue non-specific alkaline phosphatase (TNSALP) gene, leading on the one hand to decreased activity of the T…
    AACE Clin Case Rep. 2019 Nov-Dec; 5(6):e344-e348.Magdaleno AL, Singh S, … Lee YY
  • CONCLUSIONS: Improvement in patient reported symptoms, daily pedometer count, and whole body scans was noted after treatment of adult-onset hypophosphatasia with asfotase alfa enzyme replacement therapy. The significance of increased ALP levels after treatment is currently unknown.
  • Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels. [Journal Article]
    Intern Med. 2020 Mar 15; 59(6):811-815.Koyama H, Yasuda S, … Tanaka T
  • A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-s…
  • Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice. [Review]
    Adv Exp Med Biol. 2019; 1148:279-322.Bowden SA, Foster BL
  • Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization characterized by low serum alkaline phosphatase. HPP is caused by loss-of-function mutations in the ALPL gene encoding the protein, tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is expressed by mineralizing cells of the skeleton and dentition and is associated with the mineralization process. Gen…
  • Alkaline Phosphatase Replacement Therapy. [Review]
    Adv Exp Med Biol. 2019; 1148:201-232.Bianchi ML, Vai S
  • Hypophosphatasia (HPP) is a rare genetic disease, characterized by the defective production of tissue-non-specific alkaline phosphatase (TNSALP). Six subtypes of the disease - affecting neonates (beginning in utero), infants, children, or adults - are recognized: perinatal lethal, prenatal benign, infantile, childhood, adult, and odontohypophosphatasia. The clinical presentation of these subtypes…
  • Quality Control and Downstream Processing of Therapeutic Enzymes. [Review]
    Adv Exp Med Biol. 2019; 1148:55-80.Gervais D
  • Therapeutic enzymes are a commercially minor but clinically important area of biopharmaceuticals. An array of therapeutic enzymes has been developed for a variety of human diseases, including leukaemia and enzyme-deficiency diseases such as Gaucher's disease. Production and testing of therapeutic enzymes is strictly governed by regulatory bodies in each country around the world, and batch-to-batc…
  • Update on the management of hypophosphatasia. [Review]
    Ther Adv Musculoskelet Dis. 2019; 11:1759720X19863997.Choida V, Bubbear JS
  • Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the …
  • Reliability and Validity of the 6-Minute Walk Test in Hypophosphatasia. [Journal Article]
    JBMR Plus. 2019 Jun; 3(6):e10131.Phillips D, Tomazos IC, … Lerma Lara S
  • This investigation evaluated the reliability and validity of the 6-Minute Walk Test (6MWT) in patients with pediatric hypophosphatasia (HPP). Children (aged 6 to 12 years; n = 11), adolescents (13 to 17 years; n = 4), and adults (18 to 65 years; n = 9) completed the 6MWT at screening and baseline in two clinical studies of asfotase alfa. Test-retest reliability of the 6MWT, evaluated with Pearson…
  • Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases. [Review]
    Paediatr Drugs. 2019 Apr; 21(2):95-106.Semler O, Rehberg M, … Hoyer-Kuhn H
  • Increasing knowledge in the field of rare diseases has led to new therapeutic approaches in the last decade. Treatment strategies have been developed after elucidation of the underlying genetic alterations and pathophysiology of certain diseases (e.g., in osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia and fibrodysplasia ossificans progressiva). Most of the dru…
  • Hypophosphatasia: Canadian update on diagnosis and management. [Consensus Development Conference]
    Osteoporos Int. 2019 Sep; 30(9):1713-1722.Khan AA, Josse R, … Greenberg CR
  • CONCLUSIONS: HPP is associated with significant morbidity and mortality. Pharmacologic intervention can result in significant clinical improvement. This Canadian position paper provides an overview of the musculoskeletal, renal, dental, respiratory, and neurologic manifestations of hypophosphatasia. The current state of the art in the diagnosis and management of hypophosphatasia is presented.
  • A rare mutation in hypophosphatasia: a case report of adult form and review of the literature. [Case Reports]
    Arch Endocrinol Metab. 2019 Feb; 63(1):89-93.Galeano-Valle F, Vengoechea J, Galindo RJ
  • Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-osseous and arthritic complications featuring tooth loss, rickets or osteomalacia, and calcific arthopa…
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