Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autor principal: Keutzer, Joan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
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
_version_ 1783596909931266048
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