Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice
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 familia...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2018-03-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426917301271 |
| id |
doaj-e73fde8deed14693b673ace1c4f6e110 |
|---|---|
| record_format |
Article |
| spelling |
doaj-e73fde8deed14693b673ace1c4f6e1102020-11-25T00:52:52ZengElsevierMolecular Genetics and Metabolism Reports2214-42692018-03-0114C222610.1016/j.ymgmr.2017.10.006Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practiceGregory Costain0Aideen M. Moore1Lauren Munroe2Alison Williams3Randi Zlotnik Shaul4Cheryl Rockman-Greenberg5Martin Offringa6Peter Kannu7Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Neonatology, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Neonatology, The Hospital for Sick Children, Toronto, ON, CanadaDepartment of Bioethics, The Hospital for Sick Children, University of Toronto Joint Centre for Bioethics, Toronto, ON, CanadaDepartment of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, ON, CanadaChildren's Hospital Research Institute of Manitoba, Department of Paediatrics and Child Health, University of Manitoba, Winnipeg, MB, CanadaDivision of Neonatology, The Hospital for Sick Children, Toronto, ON, CanadaDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, CanadaEnzyme 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.http://www.sciencedirect.com/science/article/pii/S2214426917301271HypophosphatasiaAlkaline phosphataseALPLSkeletal dysplasiaEnzyme replacement therapyAsfotase alfaOrphan drug |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Gregory Costain Aideen M. Moore Lauren Munroe Alison Williams Randi Zlotnik Shaul Cheryl Rockman-Greenberg Martin Offringa Peter Kannu |
| spellingShingle |
Gregory Costain Aideen M. Moore Lauren Munroe Alison Williams Randi Zlotnik Shaul Cheryl Rockman-Greenberg Martin Offringa Peter Kannu Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice Molecular Genetics and Metabolism Reports Hypophosphatasia Alkaline phosphatase ALPL Skeletal dysplasia Enzyme replacement therapy Asfotase alfa Orphan drug |
| author_facet |
Gregory Costain Aideen M. Moore Lauren Munroe Alison Williams Randi Zlotnik Shaul Cheryl Rockman-Greenberg Martin Offringa Peter Kannu |
| author_sort |
Gregory Costain |
| title |
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice |
| title_short |
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice |
| title_full |
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice |
| title_fullStr |
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice |
| title_full_unstemmed |
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice |
| title_sort |
enzyme replacement therapy in perinatal hypophosphatasia: case report of a negative outcome and lessons for clinical practice |
| publisher |
Elsevier |
| series |
Molecular Genetics and Metabolism Reports |
| issn |
2214-4269 |
| publishDate |
2018-03-01 |
| description |
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. |
| topic |
Hypophosphatasia Alkaline phosphatase ALPL Skeletal dysplasia Enzyme replacement therapy Asfotase alfa Orphan drug |
| url |
http://www.sciencedirect.com/science/article/pii/S2214426917301271 |
| work_keys_str_mv |
AT gregorycostain enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT aideenmmoore enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT laurenmunroe enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT alisonwilliams enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT randizlotnikshaul enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT cherylrockmangreenberg enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT martinoffringa enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice AT peterkannu enzymereplacementtherapyinperinatalhypophosphatasiacasereportofanegativeoutcomeandlessonsforclinicalpractice |
| _version_ |
1725240459881611264 |