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Neurofibromatosis type 1 (NF1)- and NF2-related schwannomatosis are rare autosomal dominant monogenic disorders characterized by a predisposition for nerve-associated tumors. Current treatments focus on symptomatic management, but advancements in the gene therapy field present unique opportunities to treat the genetic underpinnings and develop curative therapies for NF. Approaches such as nonsense suppression agents and oligonucleotide therapies are becoming more mature and have emerging preclinical data in the context of NF. Furthermore, there has been progress in developing gene therapy vectors that can be delivered locally into tumors to ablate or shrink their size. While still a nascent research area, gene addition and gene repair strategies hold tremendous promise for the prevention and treatment of NF-related tumors. These technologies will also require parallel development of delivery vectors able to target the Schwann cells from which tumors most commonly arise. This review seeks to contextualize these advancements and which hurdles remain for their clinical adoption.
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O’Donohue et al. (2025) studied this question.
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