# US 11,441,186 B2 · Identification of unique gene expression profiles in children with regressive autism spectrum disorder (ASD) and Ileocolitis

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- Number: US 11,441,186 B2
- Document ID: US11441186B2
- Status: Granted
- Kind: B2
- Application number: 16/298,592
- Filed: 2019-03-11
- Published: 2019-09-05
- Granted: 2022-09-13
- Earliest claimed: 2013-02-06
- Assignees: Wake Forest University Health Sciences
- Applicants: Wake Forest University Health Sciences; Arthur Krigsman
- Inventors: Stephen Walker; Arthur Krigsman
- Web page: https://patentgrep.com/patent/US11441186B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- A61K 31/56: Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids
- A61K 31/606: having amino groups
- A61K 38/43: Enzymes; Proenzymes; Derivatives thereof
- G01N 33/6893: {related to diseases not provided for elsewhere}
- G01N 33/6896: {Neurological disorders, e.g. Alzheimer's disease}
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression 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)
- 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 invention provides compositions and methods for identifying autism and autism spectrum disorders in humans. The invention also includes compositions and methods for identifying unique gene expression profiles in children with regressive autism spectrum disorder (ASD) and ileocolitis.

## Claims

### Claim 1

A method of treating a gastrointestinal disorder selected from the group consisting of ileocolitis, ileitis, and colitis, in a human child, wherein said child has an autism spectrum disorder, the method comprising
obtaining a biological sample from the colon or ileum of the child by ileocolonoscopy;
immediately storing the biological sample in RNA stabilizer solution;
freezing the biological sample within 48 hours;
measuring the level of IGF2BP1 RNA transcripts in the biological sample,
wherein an increase in the level of IGF2BP1 RNA transcripts in the biological sample relative to the level of IGF2BP1 RNA transcripts in a control indicates that the child has or is at risk of having a gastrointestinal disorder; and
administering a treatment for the gastrointestinal disorder to the child with the gastrointestinal disorder.

### Claim 2

A method of treating a gastrointestinal disorder selected from the group consisting of ileocolitis, ileitis, and colitis, in a human child, wherein said child has an autism spectrum disorder, the method comprising
obtaining a biological sample from the colon or ileum of the child by ileocolonoscopy;
immediately storing the biological sample in RNA stabilizer solution;
freezing the biological sample within 48 hours;
measuring the level of TNFRSF12A RNA transcripts in the biological sample,
wherein for the biological sample obtained from the colon, an increase in the level of TNFRSF12A RNA transcripts relative to the level of TNFRSF12A RNA transcripts in a control indicates that the child has or is at risk of having a gastrointestinal disorder;
wherein for the biological sample obtained from the ileum, decrease in the level of TNFRSF12A RNA transcripts relative to the level of TNFRSF12A RNA transcripts in a control indicates that the child has or is at risk of having a gastrointestinal disorder; and
administering a treatment for the gastrointestinal disorder to the child with the gastrointestinal disorder.