Gene therapy for tuberous sclerosis
AssigneeThe General Hospital Corporation
InventorsXandra Breakefield, Casey Maguire, Shilpa Prabhakar, David Yellen
Life of this patent
Estimating the term…
Abstract
The invention provides compositions and methods for treating tuberous sclerosis complex (TSC). In particular, provided are condensed tuberins (cTuberins), cTuberin nucleic acids, and recombinant adeno-associated viruses (rAAVs) carrying a cTuberin nucleic acid for treating a patient with TSC.
Claims21
A protein, comprising a hamartin binding region and a GTPase-activating protein (GAP) region, wherein said protein comprises:
- (i) a hamartin binding region having at least 94% sequence identity to SEQ ID NO:
- 2, (ii) a GTPase-activating protein (GAP) region having at least 93% sequence identity to SEQ ID NO:
- 3, and iii) a spacer sequence linking the hamartin binding region to the GAP region, wherein the spacer sequence comprises SGGG (SEQ ID NO:
- 13), and wherein said protein lacks amino acids 451-1514 of human tuberin (SEQ ID NO:
- 10).
A recombinant adeno-associated virus (rAAV), said rAAV comprising an AAV capsid and an AAV genome packaged therein, said AAV genome comprising a nucleic acid molecule capable of expressing a protein comprising a hamartin binding region and a GAP region, wherein said protein comprises:
- (i) a hamartin binding region having at least 94% sequence identity to SEQ ID NO:
- 2, (ii) a GTPase-activating protein (GAP) region having at least 93% sequence identity to SEQ ID NO:
- 3, and (iii) a spacer sequence linking the hamartin binding region to the GAP region, wherein the spacer sequence comprises SGGG (SEQ ID NO:
- 13), and wherein said protein lacks amino acids 451-1514 of human tuberin (SEQ ID NO:
- 10).
A method of treating a patient having tuberous sclerosis complex (TSC), said method comprising administering to said patient a protein comprising a hamartin binding region and a GAP region, wherein said protein comprises:
- (i) a hamartin binding region having at least 94% sequence identity to SEQ ID NO:
- 2, (ii) a GTPase-activating protein (GAP) region having at least 93% sequence identity to SEQ ID NO:
- 3, and (iii) a spacer sequence linking the hamartin binding region to the GAP region, wherein the spacer sequence comprises SGGG (SEQ ID NO:
- 13), and wherein said protein lacks amino acids 451-1514 of human tuberin (SEQ ID NO:
- 10).
Dependencies are inferred from the claim text.