# US 12,180,253 B2 · Materials and methods for treating Friedreich's Ataxia > Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt - Number: US 12,180,253 B2 - Document ID: US12180253B2 - Status: Granted - Kind: B2 - Application number: 17/900,450 - Filed: 2022-08-31 - Published: 2023-08-03 - Granted: 2024-12-31 - Earliest claimed: 2019-07-29 - Assignees: The Trustees of Indiana University - Applicants: The Trustees of Indiana University - Inventors: Ronald Mark Payne - Web page: https://patentgrep.com/patent/US12180253B2 ## CPC - C07K 14/47: from mammals - A61K 9/0019: {Injectable compositions; Intramuscular, intravenous, arterial, subcutaneous administration; Compositions to be administered through the skin in an invasive manner (non-active ingredients are additionally classified in A61K47/00)} - A61K 38/1709: {from mammals} - A61P 9/02: Non-specific cardiovascular stimulants, e.g. drugs for syncope, antihypotensives - A61P 25/28: for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia - A61K 38/00: Medicinal preparations containing peptides (peptides containing beta-lactam rings A61K31/00; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, A61K31/00; ergot alkaloids of the cyclic peptide type A61K31/48; containing macromolecular compounds having statistically distributed amino acid units A61K31/74; medicinal preparations containing antigens or antibodies A61K39/00; medicinal preparations characterised by the non-active ingredients, e.g. peptides as drug carriers, A61K47/00) - C07K 2319/07: containing a mitochondrial localisation signal - C07K 2319/10: containing a tag for extracellular membrane crossing, e.g. TAT or VP22 - C07K 2319/21: containing a His-tag - C07K: PEPTIDES (peptides in foodstuffs A23; obtaining protein compositions for foodstuffs, working-up proteins for foodstuffs A23J; preparations for medicinal purposes A61K; peptides containing beta-lactam rings C07D; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, C07D; ergot alkaloids of the cyclic peptide type C07D519/02; macromolecular compounds having statistically distributed amino acid units in their molecules, i.e. when the preparation does not provide for a specific; but for a random sequence of the amino acid units, homopolyamides and block copolyamides derived from amino acids C08G69/00; macromolecular products derived from proteins C08H1/00; preparation of glue or gelatine C09H; single cell proteins, enzymes C12N; genetic engineering processes for obtaining peptides C12N15/00; compositions for measuring or testing processes involving enzymes C12Q; investigation or analysis of biological material G01N33/00) - A61K: PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES (devices or methods specially adapted for bringing pharmaceutical products into particular physical or administering forms A61J3/00; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; soap compositions C11D) - A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS ## Abstract A TAT-FXN fusion polypeptide useful in treating subjects diagnosed with Friedrich's Ataxia, hypertrophic cardiomyopathy, or both are disclosed, as are related methods of treatment and pharmaceutical compositions. ## Claims ### Claim 1 A method of treating Friedreich's Ataxia (FRDA), said method comprising administering to a subject in need thereof a fusion polypeptide consisting of: a first peptide having an amino acid sequence of SEQ ID NO: 2; a second peptide having an amino acid sequence of SEQ ID NO: 4; and a 2-amino acid linker disposed between the first and second peptides. ### Claim 2 (depends on 1) The method of claim 1, wherein the 2-amino acid linker is Gly-Gly. ### Claim 3 (depends on 1) The method of claim 1, wherein the sequence of the fusion polypeptide, beginning at the N-terminus is: the first peptide, followed by the linker, followed by the second peptide. ### Claim 4 A method of treating Friedreich's Ataxia (FRDA), said method comprising administering to a subject in need thereof a fusion polypeptide consisting of the amino acid sequence of SEQ ID NO: 1. ### Claim 5 (depends on 1, 2, 3, 4) The method of any one of claims 1-4, wherein treating FRDA comprises treating an FRDA-associated disease. ### Claim 6 (depends on 5) The method of claim 5, wherein said FRDA-associated disease is selected from the group consisting of FRDA-associated pneumonia, FRDA-associated hypertrophic cardiomyopathy and FRDA-associated diabetes. ### Claim 7 (depends on 5) The method of claim 5, wherein said FRDA-associated disease is selected from the group consisting of loss of proprioception, loss of reflexes, loss of ability to walk, loss of ability to hold gaze with eyes, impaired swallowing, progressive loss of hearing, progressive loss of vision, progressive loss of speech, elevated triglycerides, low HDL cholesterol, elevated LDL cholesterol, scoliosis and combinations thereof. ### Claim 8 (depends on 1, 2, 3, 4) The method of any one of claims 1-4, wherein the fusion polypeptide is administered subcutaneously. ### Claim 9 (depends on 1, 2, 3, 4) The method of any one of claims 1-4, wherein the subject is a human. ### Claim 10 A method of treating Friedreich's Ataxia (FRDA), said method comprising administering to a subject in need thereof a fusion polypeptide comprising: a first peptide having an amino acid sequence of SEQ ID NO: 2; and a second peptide having an amino acid sequence of SEQ ID NO: 4; wherein the first peptide is fused through a 2-amino acid linker to the second peptide. ### Claim 11 (depends on 10) The method of claim 10, wherein the 2-amino acid linker is Gly-Gly. ### Claim 12 (depends on 10) The method of claim 10, wherein the sequence of the fusion polypeptide, beginning at the N-terminus is: the first peptide, followed by the linker, followed by the second peptide. ### Claim 13 A method of treating Friedreich's Ataxia (FRDA), said method comprising administering to a subject in need thereof a fusion polypeptide comprising the amino acid sequence of SEQ ID NO: 1. ### Claim 14 (depends on 10, 11, 12, 13) The method of any one of claims 10-13, wherein treating FRDA comprises treating an FRDA-associated disease. ### Claim 15 (depends on 14) The method of claim 14, wherein said FRDA-associated disease is selected from the group consisting of FRDA-associated pneumonia, FRDA-associated hypertrophic cardiomyopathy and FRDA-associated diabetes. ### Claim 16 (depends on 14) The method of claim 14, wherein said FRDA-associated disease is selected from the group consisting of loss of proprioception, loss of reflexes, loss of ability to walk, loss of ability to hold gaze with eyes, impaired swallowing, progressive loss of hearing, progressive loss of vision, progressive loss of speech, elevated triglycerides, low HDL cholesterol, elevated LDL cholesterol, scoliosis and combinations thereof. ### Claim 17 (depends on 10, 11, 12, 13) The method of any one of claims 10-13, wherein the fusion polypeptide is administered subcutaneously. ### Claim 18 (depends on 10, 11, 12, 13) The method of any one of claims 10-13, wherein the subject is a human.