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Authors
Silver, Hailey
Greenberg, Rori
Siper, Paige M.
Zweifach, Jessica
Soufer, Renee
Sahin, Mustafa
Berry-Kravis, Elizabeth
Soorya, Latha Valluripalli
Thurm, Audrey
Bernstein, Jonathan A.
Kolevzon, Alexander
Grice, Dorothy E.
Buxbaum, Joseph D.
Levy, Tess
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Funding
Funding for this research was provided by:
Beatrice and Samuel A. Seaver Foundation
SHANK2 foundation
Developmental Synaptopathies Consortium (U54NS092090, U54NS092090, U54NS092090, U54NS092090, U54NS092090, U54NS092090, U54NS092090)
RDCRN Data Management and Coordinating Center (U2CTR002818, U2CTR002818, U2CTR002818, U2CTR002818, U2CTR002818, U2CTR002818, U2CTR002818)
Intramural Research Program of the NIMH (ZICMH002961)
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Article History
Received: 31 October 2024
Accepted: 3 March 2025
First Online: 30 April 2025
Declarations
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: The Icahn School of Medicine at Mount Sinai’s Institutional Review Board (IRB) approved the study. Caregivers or legal guardians of the participants provided informed consent, and assent was obtained when applicable.
: Not applicable.
: A.K. receives research support from AMO Pharma and consults for Acadia, Alkermes, Neuren, and GW Pharma. He serves on Scientific Advisory Boards for Ovid Therapeutics, Jaguar Therapeutics, and Ritrova Therapeutics. P.M.S. and Mount Sinai licensed the SAND developed by P.M.S. to Stoelting, Co. J.D.B. holds a patent for IGF-1 in Phelan-McDermid syndrome, holds an honorary professorship from Aarhus University Denmark, and is a journal editor for Springer Nature. M.S. reports grant support from Biogen, Astellas, Neurvati Neurosciences, Bridgebio, and Aucta. He has served on scientific advisory boards for Neurogene, Jaguar Gene Therapy and Noema. EBK has received funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Ovid, Retrophin, AMO, Yamo, Acadia, Avexis, Ionis, Ultragenyx, Lumos, GeneTx, and Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to consult on trial design or development strategies and/or conduct clinical trials in FXS or other NDDs or neurodegenerative disorders, and from Asuragen Inc to develop testing standards for FMR1 testing. All funding to EBK is directed to Rush University Medical Center to support rare disease programs. EBK receives no personal funds. The remaining authors declare that they have no competing interests.
