Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa

Kishnani, Priya S., Rush, Eric T., Arundel, Paul, Bishop, Nick, Dahir, Kathryn, Fraser, William, Harmatz, Paul, Linglart, Agnès, Munns, Craig F., Nunes, Mark E., Saal, Howard M., Seefried, Lothar and Ozono, Keiichi (2017) Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Molecular Genetics and Metabolism, 122 (1-2). 4–17. ISSN 1096-7192

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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. Asfotase alfa is a human, recombinant enzyme replacement therapy that is approved in many countries for the treatment of patients with HPP. To address the unmet need for guidance in the monitoring of patients receiving asfotase alfa, an international panel of physicians with experience in diagnosing and managing HPP convened in May 2016 to discuss treatment monitoring parameters. The panel discussions focused on recommendations for assessing and monitoring patients after the decision to treat with asfotase alfa had been made and did not include recommendations for whom to treat. Based on the consensus of panel members, this review provides guidance on the monitoring of patients with HPP during treatment with asfotase alfa, including recommendations for laboratory, efficacy, and safety assessments and the frequency with which these should be performed during the course of treatment. Recommended assessments are based on patient age and include regular monitoring of biochemistry, skeletal radiographs, respiratory function, growth, pain, mobility and motor function, and quality of life. Because of the systemic presentation of HPP, a coordinated, multidisciplinary, team-based, patient-focused approach is recommended in the management of patients receiving asfotase alfa. Monitoring of efficacy and safety outcomes must be tailored to the individual patient, depending on medical history, clinical manifestations, availability of resources in the clinical setting, and the clinician's professional judgment.

Item Type: Article
Uncontrolled Keywords: enzyme replacement therapy,alkaline phosphatase,tissue-nonspecific alkaline phosphatase,asfotase alfa,hypophosphatasia,metabolic bone diseases,therapeutic drug monitoring,sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine
Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health
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Depositing User: Pure Connector
Date Deposited: 29 Jul 2017 05:09
Last Modified: 19 Oct 2023 02:03
DOI: 10.1016/j.ymgme.2017.07.010


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