# US 2025/0152575 A1 · Methods for treating immunodeficiency disease

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- Number: US 2025/0152575 A1
- Document ID: US20250152575A1
- Status: Published application
- Kind: A1
- Application number: 18/895,123
- Filed: 2024-09-24
- Published: 2025-05-15
- Earliest claimed: 2015-12-22
- Assignees: X4 Pharmaceuticals, Inc.
- Applicants: X4 Pharmaceuticals, Inc.
- Inventors: Robert D. Arbeit; Paula Marie Ragan
- Web page: https://patentgrep.com/patent/US20250152575A1

## CPC

- A61K 31/4709: Non-condensed quinolines and containing further heterocyclic rings
- A61K 9/0053: {Mouth and digestive tract, i.e. intraoral and peroral administration}
- A61K 9/485: {Inorganic compounds}
- A61K 9/4858: {Organic compounds}
- A61K 9/4866: {Organic macromolecular compounds}
- A61K 31/395: having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61P 17/12: Keratolytics, e.g. wart or anti-corn preparations
- A61P 37/04: Immunostimulants
- C07D 235/14: Radicals substituted by nitrogen atoms (by nitro radicals C07D235/10)
- C07D 401/04: directly linked by a ring-member-to-ring-member bond
- C07D 401/12: linked by a chain containing hetero atoms as chain links
- 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
- C07D: HETEROCYCLIC COMPOUNDS (macromolecular compounds C08)

## Abstract

The present invention relates to methods of treating patients with WHIM syndrome or related disorders, such as myelokathexis, in which X4P-001 is administered in order to reduce the activity of CXCR4. The methods demonstrate surprising effectiveness, with comparatively little toxicity.

## Claims

### Claim at position 1

1-20. (canceled)

### Claim 21

A method of treating WHIM syndrome in a patient in need thereof by administering:
i) an effective amount of X4P-001 or a pharmaceutically acceptable salt or a composition thereof; and
ii) an effective amount of an agent selected from the group consisting of granulocyte colony-stimulating factor (G-CSF), granulocyte-macrophage colony-stimulating factor (GM-CSF), and intravenous immunoglobulin (IVIG).

### Claim 22 (depends on 21)

The method of claim 21, wherein the X4P-001 or the pharmaceutically acceptable salt thereof or composition thereof is administered in a dose of from about 200 mg/day to about 600 mg/day in a single or divided dose.

### Claim 23 (depends on 21)

The method of claim 21, wherein the agent is granulocyte colony-stimulating factor (G-CSF) or granulocyte-macrophage colony-stimulating factor (GM-CSF).

### Claim 24 (depends on 21)

The method of claim 21, wherein the agent is intravenous immunoglobulin (IVIG).

### Claim 25

A method of treating myelokathexis associated with a mutation in CXCR4 in a patient in need thereof by administering an effective amount of X4P-001 or a pharmaceutically acceptable salt or composition thereof.

### Claim 26 (depends on 25)

The method of claim 25, wherein cells taken from the patient exhibit expression of a mutant form of CXCR4.

### Claim 27 (depends on 26)

The method of claim 26, wherein cells taken from the patient exhibit increased expression of CXCR4.

### Claim 28 (depends on 26)

The method of claim 26, wherein the mutant form of CXCR4 is selected from the group consisting of R334X, E343X, and S339fs342X.

### Claim 29 (depends on 28)

The method of claim 28, wherein the mutant form of CXCR4 is R334X or E343X.

### Claim 30 (depends on 25)

The method of claim 25, wherein the X4P-001 or a pharmaceutically acceptable salt or composition thereof is administered orally once per day.

### Claim 31 (depends on 25)

The method of claim 25, wherein the X4P-001 or a pharmaceutically acceptable salt or composition thereof is administered orally twice per day.

### Claim 32 (depends on 25)

The method of claim 25, wherein the amount of X4P-001 or a pharmaceutically acceptable salt or composition thereof is effective to increase absolute neutrophil count (ANC) to a level greater than or equal to 600/μL and/or to increase absolute lymphocyte count (ALC) to a level greater than or equal to 1000/μL.

### Claim 33

A method of treating WHIM syndrome or myelokathexis in a patient in need thereof by administering an effective amount of X4P-001 or a pharmaceutically acceptable salt or composition thereof.

### Claim 34 (depends on 33)

The method of claim 33, wherein the patient has at least one of:
i) neutropenia (ANC≤400 or ≤600/μL) and/or lymphopenia (ALC≤650 or ≤1000/μL, wherein the lymphopenia is not characteristic of other chronic neutropenias);
ii) neutropenia and chronic warts; and
iii) myelokathexis on bone marrow aspirate.

### Claim 35 (depends on 33)

The method of claim 33, wherein cells taken from the patient exhibit expression of a mutant form of CXCR4.

### Claim 36 (depends on 33)

The method of claim 33, wherein cells taken from the patient exhibit increased expression of CXCR4.

### Claim 37 (depends on 35)

The method of claim 35, wherein the mutant form of CXCR4 is selected from the group consisting of R334X, E343X, and S339fs342X.

### Claim 38 (depends on 37)

The method of claim 37, wherein the mutant form of CXCR4 is R334X or E343X.

### Claim 39 (depends on 33)

The method of claim 33, wherein the X4P-001 or a pharmaceutically acceptable salt or composition thereof is administered orally once or twice per day.

### Claim 40 (depends on 33)

The method of claim 33, wherein the amount of X4P-001 or a pharmaceutically acceptable salt or composition thereof is effective to increase absolute neutrophil count (ANC) to a level greater than or equal to 600/μL and/or to increase absolute lymphocyte count (ALC) to a level greater than or equal to 1000/μL.