# US 2024/0197663 A1 · Pharmaceutical compositions and uses directed to lysosomal storage disorders

> Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt

- Number: US 2024/0197663 A1
- Document ID: US20240197663A1
- Status: Published application
- Kind: A1
- Application number: 18/430,858
- Filed: 2024-02-02
- Published: 2024-06-20
- Earliest claimed: 2016-08-11
- Assignees: Intrabio Ltd.
- Applicants: Intrabio Limited
- Inventors: Michael STRUPP
- Web page: https://patentgrep.com/patent/US20240197663A1

## CPC

- A61K 31/198: Alpha-amino acids, e.g. alanine or edetic acid [EDTA] (betaine A61K31/205; proline A61K31/401; tryptophan A61K31/405; histidine A61K31/4172; peptides not degraded to individual amino acids A61K38/00)
- A61K 31/13: Amines {(A61K31/04 takes precedence)}
- A61P 25/00: Drugs for disorders of the nervous system
- 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: 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

The present disclosure provides for treating lysosomal storage disorders (LSDs) comprising administering acetyl-leucine or a pharmaceutically acceptable salt thereof.

## Claims

### Claim at position 1

1-28. (canceled)

### Claim 29

A method of treating a lysosomal storage disorder (LSD) or one or more symptoms associated with the LSD in a subject in need thereof comprising:
administering a therapeutically effective amount of acetyl-leucine or a pharmaceutically acceptable salt thereof to the subject for a duration chosen from at least about 3 months, at least about 6 months, at least about 1 year, at least about 2 years, and at least about 5 years,
wherein the LSD is chosen from Niemann-Pick type C disease, Tay-Sachs disease, the AB variant of Tay-Sachs disease, Sandhoff disease, Niemann-Pick type A disease, Niemann-Pick type B disease, Fabry disease, neuronal ceroid lipofuscinoses, Krabbe disease, Farber disease, Gaucher disease, metachromatic leukodystrophy, multiple sulphatase deficiency, mucolipidosis II, mucolipidosis III, MPS III, MPS VII, GM1 gangliosidosis, and aspartylglucosaminuria, and
wherein the subject achieves an improved Scale for the Assessment and Rating of Ataxia (SARA) assessment compared to before administration.

### Claim 30

A method of delaying progression of a lysosomal storage disorder (LSD) or more symptoms associated with the LSD over time as compared to typical disease progression in a subject in need thereof comprising:
administering a therapeutically effective amount of acetyl-leucine or a pharmaceutically acceptable salt thereof to the subject for a duration chosen from at least about 3 months, at least about 6 months, at least about 1 year, at least about 2 years, and at least about 5 years, and
wherein the subject achieves an improved Scale for the Assessment and Rating of Ataxia (SARA) assessment compared to before administration.

### Claim 31

A method of reversing progression of a lysosomal storage disorder (LSD) or one or more symptoms associated with the LSD over time in a subject in need thereof comprising:
administering a therapeutically effective amount of acetyl-leucine or a pharmaceutically acceptable salt thereof to the subject for a duration chosen from at least about 3 months, at least about 6 months, at least about 1 year, at least about 2 years, and at least about 5 years, and
wherein the subject achieves an improved Scale for the Assessment and Rating of Ataxia (SARA) assessment compared to before administration.

### Claim 32 (depends on 29)

The method according to claim 29, wherein the acetyl-leucine is acetyl-DL-leucine.

### Claim 33 (depends on 29)

The method according to claim 29, wherein the acetyl-leucine has an enantiomeric excess of the L-enantiomer or the D-enantiomer.

### Claim 34 (depends on 29)

The method according to claim 29, wherein the acetyl-leucine is in a single enantiomeric form of either the L-enantiomer or the D-enantiomer.

### Claim 35 (depends on 35)

The method according to claim 35, wherein the single enantiomeric form is the L-enantiomer.

### Claim 36 (depends on 29)

The method according to claim 29, wherein the method comprises administering the acetyl-leucine to the subject in need thereof at a therapeutically effective amount of from about 1 g to about 15 g per day.

### Claim 37 (depends on 29)

The method according to claim 29, wherein the LSD is chosen from Niemann-Pick type A disease, Niemann-Pick type B disease, and Niemann-Pick type C disease.

### Claim 38 (depends on 37)

The method according to claim 37, wherein the method comprises administering the acetyl-leucine to the subject in need thereof at a therapeutically effective amount chosen from about 1 g to about 10 g per day, about 1.5 g to about 7 g per day, about 4 g to about 6 g per day, or about 4 g to about 5 g per day.

### Claim 39 (depends on 29)

The method according to claim 29, wherein the LSD is chosen from Tay-Sachs disease, Sandhoff disease, Niemann-Pick type A disease, Niemann-Pick type C disease, mucolipidosis II, MPS III, and GM1 gangliosidosis.

### Claim 40 (depends on 29)

The method according to claim 29, wherein the subject achieved at least 1 point improvement in the SARA assessment compared to before administration.

### Claim 41 (depends on 29)

The method according to claim 29, wherein the subject achieves an improvement in one or more assessments chosen from Spinocerebella Ataxia Functional Index (SCAFI), Modified Disability Rating Scale (mRDS), and EuroQol 5-Dimension 5-Level (5Q-5D-5L) questionnaire, compared to before administration.

### Claim 42 (depends on 30)

The method according to claim 30, wherein the therapeutically effective amount of acetyl-leucine or a pharmaceutically acceptable salt thereof ranges from about 1 g to about 15 g per day.

### Claim 43 (depends on 30)

The method according to claim 30, wherein the LSD is chosen from Tay-Sachs disease, Sandhoff disease, Niemann-Pick type A disease, Niemann-Pick type C disease, mucolipidosis II, MPS III, and GM1 gangliosidosis.

### Claim 44 (depends on 30)

The method according to claim 30, wherein the subject achieved at least 1 point improvement in the SARA assessment compared to before administration.

### Claim 45 (depends on 30)

The method according to claim 30, wherein the subject achieves an improvement in one or more assessments chosen from Spinocerebella Ataxia Functional Index (SCAFI), Modified Disability Rating Scale (mRDS), and EuroQol 5-Dimension 5-Level (5Q-5D-5L) questionnaire, compared to before administration.

### Claim 46 (depends on 31)

The method according to claim 31, wherein the therapeutically effective amount of acetyl-leucine or a pharmaceutically acceptable salt thereof ranges from about 1 g to about 15 g per day.

### Claim 47 (depends on 31)

The method according to claim 31, wherein the LSD is chosen from Tay-Sachs disease, Sandhoff disease, Niemann-Pick type A disease, Niemann-Pick type C disease, mucolipidosis II, MPS III, and GM1 gangliosidosis.

### Claim 48 (depends on 31)

The method according to claim 31, wherein the subject achieved at least 1 point improvement in the SARA assessment compared to before administration.

### Claim 49 (depends on 31)

The method according to claim 31, wherein the subject achieves an improvement in one or more assessments chosen from Spinocerebella Ataxia Functional Index (SCAFI), Modified Disability Rating Scale (mRDS), and EuroQol 5-Dimension 5-Level (5Q-5D-5L) questionnaire, compared to before administration.

### Claim 50 (depends on 29)

The method according to claim 29, wherein the LSD is Niemann-Pick type C disease.

### Claim 51 (depends on 30)

The method according to claim 30, wherein the LSD is Niemann-Pick type C disease.

### Claim 52 (depends on 31)

The method according to claim 31, wherein the LSD is Niemann-Pick type C disease.