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Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Identifieur interne : 000781 ( PubMed/Checkpoint ); précédent : 000780; suivant : 000782

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Auteurs : Priya S. Kishnani [États-Unis] ; Eric T. Rush [États-Unis] ; Paul Arundel [Royaume-Uni] ; Nick Bishop [Royaume-Uni] ; Kathryn Dahir [États-Unis] ; William Fraser [Royaume-Uni] ; Paul Harmatz [États-Unis] ; Agnès Linglart [France] ; Craig F. Munns [Australie] ; Mark E. Nunes [États-Unis] ; Howard M. Saal [États-Unis] ; Lothar Seefried [Allemagne] ; Keiichi Ozono [Japon]

Source :

RBID : pubmed:28888853

Abstract

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.

DOI: 10.1016/j.ymgme.2017.07.010
PubMed: 28888853


Affiliations:


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Le document en format XML

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<div type="abstract" xml:lang="en">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.</div>
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<AbstractText>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.</AbstractText>
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<Initials>N</Initials>
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<Affiliation>Academic Unit of Child Health, University of Sheffield and Sheffield Children's Hospital, Sheffield S10 2TH, UK.</Affiliation>
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<AffiliationInfo>
<Affiliation>Norwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich NR4 7UY, UK.</Affiliation>
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</Author>
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<Initials>P</Initials>
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<Country>United States</Country>
<MedlineTA>Mol Genet Metab</MedlineTA>
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<Keyword MajorTopicYN="N">Alkaline phosphatase</Keyword>
<Keyword MajorTopicYN="N">Asfotase alfa</Keyword>
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<li>Californie</li>
<li>Caroline du Nord</li>
<li>District de Basse-Franconie</li>
<li>Nebraska</li>
<li>Nouvelle-Galles du Sud</li>
<li>Ohio</li>
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<name sortKey="Nunes, Mark E" sort="Nunes, Mark E" uniqKey="Nunes M" first="Mark E" last="Nunes">Mark E. Nunes</name>
<name sortKey="Rush, Eric T" sort="Rush, Eric T" uniqKey="Rush E" first="Eric T" last="Rush">Eric T. Rush</name>
<name sortKey="Saal, Howard M" sort="Saal, Howard M" uniqKey="Saal H" first="Howard M" last="Saal">Howard M. Saal</name>
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<name sortKey="Arundel, Paul" sort="Arundel, Paul" uniqKey="Arundel P" first="Paul" last="Arundel">Paul Arundel</name>
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<name sortKey="Bishop, Nick" sort="Bishop, Nick" uniqKey="Bishop N" first="Nick" last="Bishop">Nick Bishop</name>
<name sortKey="Fraser, William" sort="Fraser, William" uniqKey="Fraser W" first="William" last="Fraser">William Fraser</name>
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<region name="Île-de-France">
<name sortKey="Linglart, Agnes" sort="Linglart, Agnes" uniqKey="Linglart A" first="Agnès" last="Linglart">Agnès Linglart</name>
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<country name="Australie">
<region name="Nouvelle-Galles du Sud">
<name sortKey="Munns, Craig F" sort="Munns, Craig F" uniqKey="Munns C" first="Craig F" last="Munns">Craig F. Munns</name>
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<country name="Allemagne">
<region name="Bavière">
<name sortKey="Seefried, Lothar" sort="Seefried, Lothar" uniqKey="Seefried L" first="Lothar" last="Seefried">Lothar Seefried</name>
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