P052: Durable fracture rate reduction in patients with OI with setrusumab treatment: 14-month data from phase 2 of the Orbit study
increased false-positive screens in healthy infants carrying pathogenic disease gene variants highlights the potential value of prenatal and parental carrier testing in informing newborn screening outcomes.
Authors
- Heather M. Byers (ORCID: https://orcid.org/0000-0002-9971-1368)
- Peter A. Smith (ORCID: https://orcid.org/0000-0003-0189-3675)
- Erik Allen Imel (ORCID: https://orcid.org/0000-0002-7284-3467)
- Maegen Wallace (ORCID: https://orcid.org/0000-0001-6278-9412)
- Danita Velasco (ORCID: https://orcid.org/0000-0002-8076-3969)
- E. Michael Lewiecki (ORCID: https://orcid.org/0000-0003-2026-9587)
- Stan Krolczyk
- Thomas Carpenter
- Gary S. Gottesman (ORCID: https://orcid.org/0000-0002-0302-3852)
- Diana Luca
Institutions
- University of New Mexico (US)
- Yale University (US)
- Ultragenyx Pharmaceutical (United States) (US)
- Phoenix Children's Hospital (US)
- Shriners Hospitals for Children (US)
- University School (US)
- Indiana University School of Medicine
- Indiana University (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102896
- Primary Topic
- Colorectal Cancer Treatments and Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00