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10.1016/j.ymgmr.2017.10.006

http://scihub22266oqcxt.onion/10.1016/j.ymgmr.2017.10.006
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C5681336!5681336!29159075
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suck abstract from ncbi


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pmid29159075      Mol+Genet+Metab+Rep 2018 ; 14 (ä): 22-6
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  • Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice #MMPMID29159075
  • Costain G; Moore AM; Munroe L; Williams A; Zlotnik Shaul R; Rockman-Greenberg C; Offringa M; Kannu P
  • Mol Genet Metab Rep 2018[Mar]; 14 (ä): 22-6 PMID29159075show ga
  • Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes. We describe in detail a patient with perinatal HPP for whom treatment with ERT was not successful. Lessons learned from this case can inform clinical decision-making and provide topics for the research agenda. We also discuss practical and ethical challenges related to treatment of an ultra-rare disease with an expensive new medication in a publicly funded healthcare system.
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