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Authors
Adams, Heather R. https://orcid.org/0000-0002-5992-4297
Augustine, Erika F.
Bonifacio, Kristen
Collins, Alyssa
Vierhile, Amy E.
Mink, Jonathan W.
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Funding
Funding for this research was provided by:
NIH (P50HD103536, U01NS101946, R01NS060022)
Abeona Therapeutics (n/a)
Batten Disease Support and Research Association (Batten Disease Support and Research Association)
Beyond Batten Disease Foundation (Beyond Batten Disease Foundation)
Noah's Hope-Hope 4 Bridget (Noah's Hope-Hope 4 Bridget)
Our Promise to Nicholas (Our Promise to Nicholas)
University of Rochester Child Neurology Research Fund (University of Rochester Child Neurology Research Fund)
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Article History
Received: 17 January 2025
Accepted: 13 July 2025
First Online: 7 August 2025
Declarations
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: The research was conducted under a study protocol approved by the University of Rochester Research Subjects Review Board (RSRB Study00001970). Parents / legal guardians provided written permission for the participation of the affected individual; the requirement to obtain assent (from children) and informed consent (from adults) with Batten disease was waived by the RSRB due to lack of capacity resulting from the cognitive impairments of the affected individuals.
: Not applicable; no individually identifying data is presented.
: Heather Adams: Dr. Adams has received payment from Abeona Therapeutics, Biogen, and Critical Path Institute (consultant), from PCORI (past member of PCORI Rare Disease Advisory panel), from the National MPS Society (Master Class faculty member; Delphi panel participant) that is unrelated to the present work, and has received funding from the NIH and from the Batten Disease Support, Research, and Advocacy (BDSRA) Foundation for research that is indirectly related to the present work. Erika Augustine: Dr. Augustine has served as a DSMB member for PTC therapeutics, has received grant funding from the NIH, Neurogene Inc, the Beyond Batten Disease Foundation, and the BDSRA Foundation and consulting funds from Latus Bio. Jonathan Mink: Dr. Mink has served as a DSMB member for PTC Therapeutics and Applied Therapeutics. He is a Central Rater for Emalex. He has served as a paid consultant to the Beyond Batten Disease Foundation and Theranexus, Inc, Neurogene, Inc, and Spark Therapeutics. He has served as Chair (unpaid) to the BDSRA Center of Excellence Overight Committee. He has received funding for research that is indirectly related to this work. Kristen Bonifacio: none. Alyssa Collins: none. Amy E Vierhile: none.
