Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease
These data highlight the benefits of early ERT initiation and ITI, along with high-dose ERT. Despite early treatment, patients with IOPD remain at risk of developing HSAT.
Authors
- Suhag H Parikh (ORCID: https://orcid.org/0000-0002-6066-9852)
- Holly Lydigsen
- Stephanie DeArmey
- Molly McPheron (ORCID: https://orcid.org/0000-0003-2133-1987)
- Damara Ortiz
- Priya Sunil Kishnani (ORCID: https://orcid.org/0000-0001-8251-909X)
- Ankit K. Desai (ORCID: https://orcid.org/0000-0001-9884-6802)
- Jennifer Hamm
- Rossana Sanchez Russo (ORCID: https://orcid.org/0000-0003-0423-2557)
- Eleanor Rodriguez-Rassi
- Sarah P. Young (ORCID: https://orcid.org/0000-0002-7671-016X)
- Irene J. Chang (ORCID: https://orcid.org/0000-0002-5842-5912)
- David Kronn
Institutions
- Emory University (US)
- University of Tennessee Health Science Center (US)
- University of California, San Francisco (US)
- New York Medical College (US)
- Maria Fareri Children's Hospital (US)
- Center for Cancer and Blood Disorders (US)
- Duke Medical Center (US)
- Children's Hospital of Pittsburgh (US)
- East Tennessee Children's Hospital (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-12-05
- DOI
- https://doi.org/10.1016/j.gimo.2025.103478
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00