Methods and assays for treating subjects with shank3 deletion, mutation or reduced expression
AssigneeMount Sinai School of Medicine
InventorsJoseph D. Buxbaum, Takeshi Sakurai, Ozlem Gunal
Life of this patent
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Abstract
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.
Claims17
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.
-4. (canceled)
A method for screening for agents for treating a subject with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression, the method comprising determining whether or not the agent enhances long-term potentiation or increases glutamate transmission, wherein an agent that enhances long-term potentiation or increases glutamate transmission is a candidate for treating a subject with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression, whereas an agent that does not enhance long-term potentiation or increase glutamate transmission is not a candidate for treating a subject with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression.
-11. (canceled)
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) or an active IGF-1 fragment including the tripeptide (1-3)IGF-1 or an analog thereof, in an amount and manner effective to treat a subject with 22q13 deletion syndrome or SHANK3 deletion or duplication, mutation or reduced expression, wherein the subject has autism spectrum disorder, autism, Asperger syndrome, pervasive developmental disorder, mental retardation, hypotonia, a speech deficit, or a developmental delay and/or defect.
(canceled)
Dependencies are inferred from the claim text.