Metabolite panel for improved screening and diagnostic testing of cystic fibrosis
AssigneeMcMaster University
InventorPhilip Britz-McKibbin
Life of this patent
Estimating the term…
Abstract
A method of diagnosing cystic fibrosis in a human subject is provided. The method includes the steps of: i) determining in a biological sample from the subject the level of one or more metabolic biomarkers; ii) comparing the level of the biomarker to a control level and determining the difference between the biomarker level and the control level; and iii) determining that the subject has cystic fibrosis or a related disorder when the difference in the level of the biomarker in the sample is statistically different from the control level.
Claims14
A method of diagnosing and treating cystic fibrosis or CFTR (cystic fibrosis transmembrane conductor regulator)-related metabolic syndrome in a human infant subject comprising:
- i) detecting in a biological sample from the subject a level of each metabolic biomarker including L-glutamine (Gln), L-tyrosine (Tyr), L-serine, glycine and a metabolite having a m/z of 290.1347 and RMT of 1.2247, and/or L-glutamine, pilocarpic acid and mono(2-ethylhexyl)phthalate (MEHP);
- ii) comparing the level of each of the biomarkers to a corresponding control level for each biomarker;
- iii) determining that the infant subject has cystic fibrosis when the levels of L-glutamine, glycine, L-serine, L-tyrosine and a metabolite having a m/z of 290.1347 and RMT of 1.2247 are statistically significantly reduced from their corresponding control levels when the sample is a blood, serum or plasma sample, and/or the level of L-glutamine is increased, and the levels of MEHP and pilocarpic acid are reduced, in comparison to their corresponding control levels when the sample is a sweat sample;
- iv) treating the infant subject determined to have cystic fibrosis with one or more of nutritional supplementation, a CFTR potentiator, a CFTR corrector, an antibiotic, an anti-inflammatory agent, a mucus-thinning drug, a bronchodilator and a pancreatic enzyme.
A method of confirming that a human infant subject is affected with cystic fibrosis and treating the subject for cystic fibrosis comprising the steps of:
- i) detecting in a biological sample from the subject a level of each metabolic biomarker including L-glutamine (Gln), L-tyrosine (Tyr), L-serine (Ser), glycine and a metabolite having a m/z:RMT of 290.1347:12247, or L-glutamine, pilocarpic acid and MEHP;
- ii) comparing the level of each of the biomarkers to a corresponding control level for each biomarker, and iii) confirming that the infant subject has cystic fibrosis when the levels of L-glutamine, glycine, L-serine, L-tyrosine and a metabolite having a m/z of 290.1347 and RMT of 1.2247 are reduced in comparison to their corresponding control levels in a blood, serum or plasma sample, or the level of L-glutamine is increased, and the levels of MEHP and pilocarpic acid are reduced, in comparison to their corresponding control levels in a sweat sample and treating the infant subject with one or more of a CFTR potentiator, a CFTR corrector, an antibiotic, an anti-inflammatory agent, a mucus-thinning drug, a bronchodilator and a pancreatic enzyme.
Dependencies are inferred from the claim text.