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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| Format: | Article |
| Language: | English |
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MDPI AG
2020-07-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/6/3/55 |
| _version_ | 1797563304810381312 |
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| author | Joan M. Keutzer |
| author_facet | Joan M. Keutzer |
| author_sort | Joan M. Keutzer |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T18:40:47Z |
| format | Article |
| id | doaj.art-9bcc77274f1a41d096419d423b036297 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T18:40:47Z |
| publishDate | 2020-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-9bcc77274f1a41d096419d423b0362972023-11-20T05:53:04ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-07-01635510.3390/ijns6030055Establishing Pompe Disease Newborn Screening: The Role of IndustryJoan M. Keutzer0Sanofi Genzyme, Cambridge, MA 02142, USAWhen 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.https://www.mdpi.com/2409-515X/6/3/55newborn screeningPompe diseaseacid α-glucosidase |
| spellingShingle | Joan M. Keutzer Establishing Pompe Disease Newborn Screening: The Role of Industry International Journal of Neonatal Screening newborn screening Pompe disease acid α-glucosidase |
| 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 | newborn screening Pompe disease acid α-glucosidase |
| url | https://www.mdpi.com/2409-515X/6/3/55 |
| work_keys_str_mv | AT joanmkeutzer establishingpompediseasenewbornscreeningtheroleofindustry |