Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Blood ELP1 levels are robust and reproducible, with concentrations below 492 pg/mL strongly indicative of disease. Moreover, given their longitudinal stability, ELP1 can serve as a marker of target engagement to evaluate the efficacy of gene-targeted therapies aimed at correcting ELP1 gene splicing and protein production.
Authors
- Matthew J. Lawless
- Jana Narasimhan (ORCID: https://orcid.org/0000-0001-5621-8592)
- Maria Luisa Cotrina (ORCID: https://orcid.org/0000-0002-1860-5572)
- Elisabetta Morini (ORCID: https://orcid.org/0000-0002-1658-5213)
- Susan A. Slaugenhaupt (ORCID: https://orcid.org/0000-0002-1658-5213)
- Marla Weetall (ORCID: https://orcid.org/0000-0002-2013-8096)
- Lucy Norcliffe‐Kaufmann (ORCID: https://orcid.org/0000-0003-0702-1333)
- Patricio Millar Vernetti (ORCID: https://orcid.org/0000-0002-1330-3321)
- Horacio Kaufmann (ORCID: https://orcid.org/0000-0002-1851-9981)
- Monica Salani
- Alejandra González‐Duarte (ORCID: https://orcid.org/0000-0002-2434-9560)
- Kaia Dalamo
- Z M Khan
- Agostino G. Rocha
Institutions
- Harvard University (US)
- Massachusetts General Hospital (US)
- Syneos Health (United States) (US)
- PTC Therapeutics (United States) (US)
- New York University (US)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1002/acn3.70254
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Dysautonomia Foundation