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Establishing Pompe Disease Newborn Screening: The Role of Industry
When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter paper were developed in an international collabor...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570269/ https://www.ncbi.nlm.nih.gov/pubmed/33123636 http://dx.doi.org/10.3390/ijns6030055 |
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author | Keutzer, Joan M. |
author_facet | Keutzer, Joan M. |
author_sort | Keutzer, Joan M. |
collection | PubMed |
description | When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter paper were developed in an international collaborative research effort led by Genzyme. Both methods were used successfully in NBS pilot programs to demonstrate the feasibility of NBS for Pompe disease. Since 2009, all babies born in Taiwan have been screened for Pompe disease. Pompe disease was added to the Recommended Uniform (Newborn) Screening Panel in the United States in 2015. NBS for Pompe disease is possible because of the unprecedented and selfless collaborations of countless international experts who shared their thoughts and data freely with the common goal of establishing NBS for Pompe disease expeditiously. |
format | Online Article Text |
id | pubmed-7570269 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75702692020-10-28 Establishing Pompe Disease Newborn Screening: The Role of Industry Keutzer, Joan M. Int J Neonatal Screen Review When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter paper were developed in an international collaborative research effort led by Genzyme. Both methods were used successfully in NBS pilot programs to demonstrate the feasibility of NBS for Pompe disease. Since 2009, all babies born in Taiwan have been screened for Pompe disease. Pompe disease was added to the Recommended Uniform (Newborn) Screening Panel in the United States in 2015. NBS for Pompe disease is possible because of the unprecedented and selfless collaborations of countless international experts who shared their thoughts and data freely with the common goal of establishing NBS for Pompe disease expeditiously. MDPI 2020-07-05 /pmc/articles/PMC7570269/ /pubmed/33123636 http://dx.doi.org/10.3390/ijns6030055 Text en © 2020 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Keutzer, Joan M. Establishing Pompe Disease Newborn Screening: The Role of Industry |
title | Establishing Pompe Disease Newborn Screening: The Role of Industry |
title_full | Establishing Pompe Disease Newborn Screening: The Role of Industry |
title_fullStr | Establishing Pompe Disease Newborn Screening: The Role of Industry |
title_full_unstemmed | Establishing Pompe Disease Newborn Screening: The Role of Industry |
title_short | Establishing Pompe Disease Newborn Screening: The Role of Industry |
title_sort | establishing pompe disease newborn screening: the role of industry |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570269/ https://www.ncbi.nlm.nih.gov/pubmed/33123636 http://dx.doi.org/10.3390/ijns6030055 |
work_keys_str_mv | AT keutzerjoanm establishingpompediseasenewbornscreeningtheroleofindustry |