Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan
This 5-year SMA NBS study using RT-PCR or the MassARRAY platform, along with an extended follow-up, demonstrates that early diagnosis and prompt treatment can enhance SMA clinical outcomes and change its natural progression in the therapeutic era. Infants with NBS who received presymptomatic DMT had better clinical outcomes than those who received symptomatic DMT.
Authors
- Ming-Yuh Chang (ORCID: https://orcid.org/0000-0002-9841-373X)
- Yuh‐Jyh Jong (ORCID: https://orcid.org/0000-0002-1735-1101)
- Wang‐Tso Lee (ORCID: https://orcid.org/0000-0003-3231-9764)
- Ting‐Rong Hsu (ORCID: https://orcid.org/0000-0001-8247-8961)
- I‐Jun Chou (ORCID: https://orcid.org/0000-0002-5791-3308)
- Wen‐Chen Liang (ORCID: https://orcid.org/0000-0002-7391-8715)
- Hui‐Min Hsieh (ORCID: https://orcid.org/0000-0003-3286-7306)
- Hsiao-Jan Chen
- Inn‐Chi Lee (ORCID: https://orcid.org/0000-0001-9192-8848)
- Chen‐Hua Wang
- Hui‐Chen Ho
- Li-Yun Wang
- Dau-Ming Niu
- Kwang‐Jen Hsiao
- Mei‐Ying Liu
- Shu‐Min Kao
Institutions
- National Yang Ming Chiao Tung University (TW)
- Kaohsiung Medical University (TW)
- National Taiwan University (TW)
- Kaohsiung Medical University Chung-Ho Memorial Hospital (TW)
- Taipei Veterans General Hospital (TW)
- Chang Gung Memorial Hospital (TW)
- Chung Shan Medical University Hospital (TW)
- Linkou Chang Gung Memorial Hospital (TW)
- Taipei City Hospital (TW)
- National Taiwan University Hospital (TW)
- Taipei Institute of Pathology (TW)
- Kaohsiung Municipal Hsiao-Kang Hospital (TW)
- Changhua Christian Hospital (TW)
- Chung Shan Medical University (TW)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1186/s13023-025-03697-1
- Citations
- 3
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 4.88
Funders
- Kaohsiung Medical University
- Kaohsiung Medical University Chung-Ho Memorial Hospital
- National Science and Technology Council