METHODS AND ASSAYS FOR TREATING SUBJECTS WITH SHANK3 DELETION, MUTATION OR REDUCED EXPRESSION

摘要

Methods and assays are disclosed for treating subjects with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression, where the methods comprise administering to the subject insulin-like growth factor 1 (IGF-1), IGF-1-derived peptide or analog, growth hormone, an AMPAkine, a compound that directly or indirectly enhances glutamate neurotransmission, including by inhibiting inhibitory (most typically GABA) transmission, or an agent that activates the growth hormone receptor or the insulin-like growth factor 1 (IGF-1) receptor, or a downstream signaling pathway thereof.

主权项

1. A method for treating a subject with 22q13 deletion syndrome or SHANK3 deletion or duplication, SHANK3 mutation or reduced expression of SHANK3, the method comprising administering to the subject insulin-like growth factor 1 (IGF-1), an active IGF-1 fragment including the tripeptide (1-3)IGF-1 or an analog thereof, growth hormone, an AMPAkine, or a compound that enhances glutamate neurotransmission, in an amount and manner effective to treat a subject with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression.