# US 9,434,979 B2 · Methods and compositions for cell-proliferation-related disorders

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- Number: US 9,434,979 B2
- Document ID: US9434979B2
- Status: Granted
- Kind: B2
- Application number: 13/452,136
- Filed: 2012-04-20
- Published: 2013-07-18
- Granted: 2016-09-06
- Earliest claimed: 2009-10-21
- Applicants: Shin-San Michael Su; Lenny Dang; Stefan Gross; Shengfang Jin; Valeria Fantin
- Inventors: Shin-San Michael Su; Lenny Dang; Stefan Gross; Shengfang Jin; Valeria Fantin
- Web page: https://patentgrep.com/patent/US9434979B2

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- A61K 31/015: carbocyclic
- A61K 31/05: Phenols {(cannabinoids A61K31/658)}
- A61K 31/122: having the oxygen directly attached to a ring, e.g. quinones, vitamin K1, anthralin
- A61K 31/194: having two or more carboxyl groups, e.g. succinic, maleic or phthalic acid
- A61K 31/225: Polycarboxylic acids
- A61K 31/355: Tocopherols, e.g. vitamin E
- A61K 31/375: Ascorbic acid, i.e. vitamin C; Salts thereof
- A61K 31/381: having five-membered rings
- A61K 31/522: having oxo groups directly attached to the heterocyclic ring, e.g. hypoxanthine, guanine, acyclovir
- A61K 31/7004: Monosaccharides having only carbon, hydrogen and oxygen atoms
- A61K 31/713: Double-stranded nucleic acids or oligonucleotides
- A61K 38/063: {Glutathione}
- A61K 38/44: Oxidoreductases (1)
- C12Q 1/32: involving dehydrogenase
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/112: Disease subtyping, staging or classification
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/136: Screening for pharmacological compounds
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- 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)

## Abstract

Methods of treating and evaluating subjects having neoactive mutants of IDH (e.g., IDH1 or IDH2).

## Claims

### Claim 1

A method of evaluating a 2-hydroxyglutaric aciduria human subject, the method comprising analyzing for the presence of a nucleic acid sequence corresponding to an isocitrate dehydrogenase (IDH) mutation having 2-hydroxyglutarate (2HG) neoactivity wherein the analysis comprises sequencing the nucleic acid sequence, thereby evaluating the 2-hydroxyglutaric aciduria human subject.

### Claim 2 (depends on 1)

The method of claim 1, wherein the mutation is an isocitrate dehydrogenase 2 (IDH2) mutation.

### Claim 3 (depends on 2)

The method of claim 2, wherein the IDH2 mutation is IDH2R172K, IDH2R172M, IDH2R172S, IDH2R172G, or IDH2R172W.

### Claim 4 (depends on 1)

The method of claim 1, wherein the nucleic acid sequence is a DNA sequence.

### Claim 5 (depends on 1)

The method of claim 1, wherein the evaluation comprises imaging the 2-hydroxyglutaric aciduria human subject to provide a determination of the presence of 2HG in the subject.

### Claim 6 (depends on 5)

The method of claim 5, wherein the imaging comprises magnetic resonance-based analysis.

### Claim 7 (depends on 6)

The method of claim 6, wherein the magnetic resonance-based analysis comprises MRI or MRS imaging analysis.