IP Library Granted Patent US 12678491
Granted Patent B2
US 12678491 · 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 12678491
App. No.
17/627,771
Granted
Jul 14, 2026
Kind
B2
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.