IP Library Granted Patent US 12,678,491
Granted Patent B2
US 12,678,491 · App. 17/627,771 · Granted Jul 14, 2026

Methods for inducing full ablation of hematopoiesis

Inventors: Chantal Lagresle-Peyrou (Paris, FR); Aurélien Olichon (Toulouse, FR); Hanem Sadek-Rock (Paris, FR); Isabelle Andre (Paris, FR); Marina Cavazzana (Paris, FR)
Assignees: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE); FONDATION IMAGINE; ASSISTANCE PUBLIQUE—HÔPITAUX DE PARIS (APHP); UNIVERSITÉ DE PARIS; UNIVERSITÉ TOULOUSE III—PAUL SABATIER
A61K38/46A61P35/00C12N9/14C12Y306/05002
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Quick Facts
Patent No.
US 12,678,491
App. No.
17/627,771
Filed
Jan 17, 2022
Granted
Jul 14, 2026
Kind
B2
Art Unit
1654
USPC
514/7.9
Abstract

The inventors have identified an autosomal dominant (AD) missense mutation in the RAC2 gene (coding for Ras-related botulinum toxin substrate 2 (RAC2)) in three Severe combined immunodeficiencies (SCID) patients whose clinical presentation overlaps with the RD SCID form but who lack AK2 mutations and deafness. Using biochemical and in vitro differentiation assays, the inventors demonstrated that the RAC2 mutation was closely related to an impairment in cell differentiation capacity and defects in cellular and mitochondrial networks. Taken as a whole, the data demonstrate that a dominant gain-of-function (GOF) mutation in the RAC2 protein's GDP/GTP binding site inhibits HSPC differentiation and leads to a severe AD form of SCID with a clinical presentation of RD. Accordingly, the results prompt to consider that introduction of the identified RAC2 mutein in the hematopoietic lineage would be suitable for inducing full ablation of hematopoiesis.

Claims (6)

1 . A method of treating acute myelogenous leukemia (AML) in a patient that has AML comprising administering to the patient a therapeutically effective amount of i) a polypeptide comprising the amino acid sequence as set forth in SEQ ID NO:1 wherein the amino residue (G) at position 12 is mutated to R, or ii) a polynucleotide encoding for a polypeptide comprising the amino acid sequence as set forth in SEQ ID NO:1 wherein the amino residue (G) at position 12 is mutated to R.

2 . The method according to claim 1 wherein the polynucleotide is a messenger RNA (mRNA).

3 . The method according to claim 1 wherein the polynucleotide is inserted in a vector.

4 . The method according to claim 1 wherein the polypeptide or the polynucleotide is conjugated to at least one other molecule selected from the group consisting of polynucleotides, polypeptides, lipids, lectins, carbohydrates, vitamins, cofactors, and drugs.

5 . The method according to claim 1 wherein the polypeptide or polynucleotide is formulated with lipidoids.

6 . The method according to claim 1 , wherein the polypeptide or the polynucleotide is formulated using one or more liposomes, lipoplexes, or lipid nanoparticles.

Assignments (3)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Apr 7, 2026
From: LAGRESLE-PEYROU, CHANTAL; OLICHON, AURÉLIEN; SADEK-ROCK, HANEM; ANDRE, ISABELLE; CAVAZZANA, MARINA
To: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE); FONDATION IMAGINE; ASSISTANCE PUBLIQUE-HÔPITAUX DE PARIS (APHP); UNIVERSITÉ DE PARIS; UNIVERSITÉ TOULOUSE III - PAUL SABATIER
Reel/Frame 074299/0017 →
CORRECTIVE ASSIGNMENT TO CORRECT THE PROPERTY NUMBER 16930208 PREVIOUSLY RECORDED AT REEL: 060390 FRAME: 0122. ASSIGNOR(S) HEREBY CONFIRMS THE CHANGE OF NAME. Recorded Jan 11, 2023
From: UNIVERSITE DE PARIS
To: UNIVERSITÉ PARIS CITÉ
Reel/Frame 062387/0489 →
CHANGE OF NAME Recorded Jun 20, 2022
From: UNIVERSITE DE PARIS
To: UNIVERSITÉ PARIS CITÉ
Reel/Frame 060390/0122 →
Priority Claims (1)
EP 19305948 · Jul 18, 2019 · regional
Continuity (1)
Related Publication 20220265781A1 · Aug 25, 2022
References Cited (6)
WO 2014017106A1 · 2014 [cited by applicant]
WO 2016164502A1 · 2016 [cited by applicant]
Bacigalupo et al. (Blood and Marrow transplant 15; 1628-1633 (2009) teach myeloblative conditioning (which is another name for fully ablative hematopoiesis in the context of bone marrow and transplantation). [cited by examiner]
The Merck Manual (https://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/acute-myeloid-leukemia-aml?query=AML accessed Apr. 4, 2025). [cited by examiner]
Gu Y et al, “Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency”, Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biolo… [cited by applicant]
Daria Illenberger et al, “Rac2 Regulation of Phospholipase C-[beta] 2 Activity and Mode of Membrane Interactions in Intact Cells”, Journal of Biological Chemistry, vol. 278, No. 10, Mar. 7, 2003 (Mar. 7, 2003), p. 8645-… [cited by applicant]