IP Library Granted Patent US 10,434,079
Granted Patent B2
US 10,434,079 · App. 14/907,397 · Granted Oct 8, 2019

Compositions and methods for the treatment of fatty acid metabolism disorders

Inventors: Harry Ischiropoulos (Media, PA); Paschalis-Thomas Doulias (Philadelphia, PA)
Assignee: The Children's Hospital of Philadelphia
A61K31/198A61K45/06C12Q1/32G01N2800/04
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Quick Facts
Patent No.
US 10,434,079
App. No.
14/907,397
Granted
Oct 8, 2019
Kind
B2
Abstract

Compositions and methods for inhibiting, treating, and/or preventing fatty acid metabolism disorders, particularly fatty acid oxidation disorders, in a subject are provided.

Claims (12)

1. A method for treating a fatty acid oxidation disorder in a subject, said method comprising administering S-nitroso-N-acetyl-cysteine (SNO-NAC) or a pharmaceutically acceptable salt thereof to said subject,

wherein said fatty acid oxidation disorder is very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD).

2. The method of claim 1 , wherein the subject has a missense or null mutation within very long-chain acyl-coenzyme A dehydrogenase (VLCAD).

3. The method of claim 2 , wherein the subject has a missense mutation within very long-chain acyl-coenzyme A dehydrogenase (VLCAD).

4. The method of claim 1 , further comprising diagnosing a fatty acid oxidation disorder in said subject prior to administration of said S-nitrosylating agent.

5. The method of claim 4 , wherein said diagnosis comprises:

a) obtaining a biological sample from said subject;

b) determining the enzymatic activity of the very long-chain acyl-coenzyme A dehydrogenase (VLCAD) in said sample; and

c) comparing the amount of VLCAD enzymatic activity determined in step b) to the amount of VLCAD enzymatic activity in a corresponding biological sample from a healthy subject, wherein a decrease in the VLCAD enzymatic activity in the biological sample from the subject compared to the healthy subject is indicative of a fatty acid oxidation disorder in said subject.

6. The method of claim 4 , wherein the diagnosis comprises determining the presence of a mutation in the very long-chain acyl-coenzyme A dehydrogenase (VLCAD) encoding nucleic acid molecule in a biological sample obtained from said subject, wherein the presence of a mutation in the VLCAD encoding nucleic acid molecule is indicative of a fatty acid oxidation disorder in said subject.

7. The method of claim 1 further comprising the administration of at least one other therapeutic agent for the treatment of the fatty acid oxidation disorder.

8. The method of claim 7 , wherein said other therapeutic agent is triheptanoin or bezafibrate.

Assignments (2)
CONFIRMATORY LICENSE Recorded Nov 21, 2022
From: CHILDREN'S HOSPITAL OF PHILADELPHIA
To: NATIONAL INSTITUTES OF HEALTH (NIH), U.S. DEPT. OF HEALTH AND HUMAN SERVICES (DHHS), U.S. GOVERNMENT
Reel/Frame 061841/0779 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Jul 8, 2019
From: ISCHIROPOULOS, HARRY; DOULIAS, PASCHALIS-THOMAS
To: THE CHILDREN'S HOSPITAL OF PHILADELPHIA
Reel/Frame 049683/0174 →
Continuity (2)
Provisional Application 61860430 · Jul 31, 2013
Related Publication 20160166525A1 · Jun 16, 2016