A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders
<i>STXBP1</i> -Related Disorder ( <i>STXBP1</i> -RD) and <i>SYNGAP1</i> -Related Disorder ( <i>SYNGAP1</i> -RD) are two common genetic causes of epilepsy, developmental delay, and intellectual disability. <i>STXBP1</i> -RD and <i>SYNGAP1</i> -RD are potential targets for drug and gene therapy, but there is limited information in the literature describing the natural history of either disorder which impedes the development of possible therapeutics. The current paper is a description of a prospective natural history study of <i>STXBP1</i> -RD and <i>SYNGAP1</i> -RD which will assess the clinical spectrum of each disorder through detailed developmental assessments, seizure histories, behavioral assessments, and electronic medical record reconstruction. By studying <i>STXBP1</i> -RD and SYNGAP1-RD with both cross sectional and longitudinal assessments, we aim to improve clinical trial readiness so that potential treatments can be assessed expeditiously.
Authors
- Charlene Son Rigby (ORCID: https://orcid.org/0000-0001-8627-996X)
- Jillian L. McKee (ORCID: https://orcid.org/0000-0001-9724-0403)
- Abiola Harrison
- Johanna Mercurio
- Sarah Tefft (ORCID: https://orcid.org/0009-0002-3179-4053)
- Charlene Woo
- Hsiao‐Tuan Chao (ORCID: https://orcid.org/0000-0002-2854-5470)
- Viveknarayanan Padmanabhan
- Julie M. Orlando (ORCID: https://orcid.org/0000-0001-7811-8429)
- Kristin Cunningham
- Sepideh Tabarestani (ORCID: https://orcid.org/0000-0003-0695-1889)
- Jonathan Toib
- Jan Magielski (ORCID: https://orcid.org/0000-0001-7290-4939)
- Ian McSalley (ORCID: https://orcid.org/0009-0007-9131-4847)
- Megan Abbott (ORCID: https://orcid.org/0009-0007-8692-0770)
- Juliet Knowles
- S Demarest
- Kathryn A. Helde (ORCID: https://orcid.org/0009-0005-7712-8664)
- Samuel R Pierce
- Bintou Bane (ORCID: https://orcid.org/0009-0005-5150-4932)
- Torrey Chisari (ORCID: https://orcid.org/0009-0006-0170-3615)
- Andrea Miele
- Benjamin Prosser
- Alexander K Gonzalez
- James Goss
- Virginie McNamar
- Michael C Kaufmann
- Katherine Xiong
- Carlyn Glatts
- Sarah M Ruggiero
- Joeylynn Coyne
- Macie McCarthy
- Ingo Helbig
- J. Michael Graglia
- Rency Dhaduk
- Michael J Boland
- Elizabeth Berry-Kravis
- Stephanie A Zbikowski
Institutions
- Synlab Czech (Czechia) (CZ)
- Rush University Medical Center (US)
- Children's Hospital of Philadelphia (US)
- Baylor College of Medicine (US)
- Cornell University (US)
- Children's Hospital Colorado (US)
- NeuroDevelopment Center (US)
- Neurological Research Institute (US)
- Texas Children's Hospital (US)
- International Myeloma Foundation (US)
- Weill Cornell Medicine (US)
- University of Pennsylvania (US)
- University of Colorado Denver (US)
- Stanford University (US)
Publication Details
- Journal
- medRxiv
- Published
- 2026-02-02
- DOI
- https://doi.org/10.64898/2026.01.30.26344887
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- American Brain Foundation
- University of Pennsylvania
- Texas Children's Hospital
- Children's Hospital Colorado
- Rush University
- Epilepsy Society
- National Institutes of Health