# US 11,998,592 B2 · Methods of treating acid sphingomyelinase deficiency

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- Number: US 11,998,592 B2
- Document ID: US11998592B2
- Status: Granted
- Kind: B2
- Application number: 17/119,035
- Filed: 2020-12-11
- Published: 2021-06-03
- Granted: 2024-06-04
- Earliest claimed: 2013-06-07
- Assignees: Genzyme Corporation
- Applicants: Genzyme Corporation
- Inventors: Wei-Lien Chuang; Gerald F. Cox; X. Kate Zhang
- Web page: https://patentgrep.com/patent/US11998592B2

## CPC

- A61K 38/465: {acting on ester bonds (3.1), e.g. lipases, ribonucleases}
- A61P 1/16: for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
- A61P 7/04: Antihaemorrhagics; Procoagulants; Haemostatic agents; Antifibrinolytic agents
- A61P 9/00: Drugs for disorders of the cardiovascular system
- A61P 11/00: Drugs for disorders of the respiratory system
- A61P 43/00: Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
- C12Y 301/04012: Sphingomyelin phosphodiesterase (3.1.4.12)
- G01N 33/92: involving lipids, e.g. cholesterol {, lipoproteins, or their receptors (steroid hormones G01N33/743)}
- G01N 2333/922: Ribonucleases (RNAses); Deoxyribonucleases (DNAses)
- G01N 2405/08: Sphingolipids
- G01N 2800/04: Endocrine or metabolic disorders
- G01N 2800/52: Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis
- 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
- C12Y: ENZYMES
- G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q)

## Abstract

The present disclosure provides methods of screening, diagnosing, monitoring and/or treating acid sphingomyelinase (ASM) disorders such as Niemann-Pick disease. In particular, the methods encompass techniques for improved diagnosis and/or treatment of an ASM disorder, for example using enzyme replacement therapy.

## Claims

### Claim 1

A method of treating acid sphingomyelinase deficiency in a human subject, wherein the method comprises:
administering to the subject intravenously a starting dose of recombinant human acid sphingomyelinase (rhASM) or a modified rhASM at 0.03 or 0.1 mg/kg and subsequent doses that increase in dose concentration until reaching 3 mg/kg;
administering maintenance doses to the subject at 3 mg/kg or less; and
measuring the level of lyso-sphingomyelin (lyso-SPM) in a biological sample collected from the subject (a) within 24 hours, (b) within 48 hours, or (c) 72 or more hours after administration of a dose;
wherein each dose is administered two weeks after the previous dose.

### Claim 2 (depends on 1)

The method of claim 1, wherein the maintenance doses are administered at 1, 2, or 3 mg/kg.

### Claim 3 (depends on 1)

The method of claim 1, wherein the subject has been determined prior to treatment to have an elevated level of lyso-SPM compared to a healthy control.

### Claim 4 (depends on 1)

The method of claim 1, wherein the biological sample is a dried blood spot.

### Claim 5 (depends on 1)

The method of claim 1, wherein the biological sample is collected prior to a subsequent dose.