Biomarker assay for use in monitoring autism

Abstract

The present invention relates to protein kinase A (PKA) for use in diagnosing autism spectrum disorder (ASD) phenotype 1 in an ASD patient wherein PKA levels are measured in a sample of the patient and wherein ASD phenotype 1 is diagnosed if the measured levels are lower than PKA levels in an age and sex-matched control sample. Additionally, the present invention relates to PKA for use in monitoring variation in ASD severity in an ASD patient, wherein PKA levels are measured in a sample of the patient and an increase in ASD severity is characterized by a decrease of PKA levels compared to PKA levels measured in previous samples of the patient. The present invention also relates to PKA for use in monitoring efficacy of an ASD treatment in an ASD phenotype 1 patient, wherein PKA levels are measured in a sample of the patient and wherein a positive response to the ASD treatment is characterized by an increase of PKA levels in comparison to baseline PKA levels of the patient prior to treatment. Furthermore, the present invention is directed to methods of diagnosing ASD phenotype 1 as well as kits comprising means to measure PKA levels.

1 . Protein kinase A for use in diagnosing autism spectrum disorder (ASD) phenotype 1 in an ASD patient and/or monitoring variation in ASD severity in an ASD patient, wherein protein kinase A levels are measured in a sample of the patient and wherein ASD phenotype 1 is diagnosed if the measured protein kinase A levels are lower than protein kinase A levels in an age and sex-matched control sample or wherein an increase in ASD severity is characterized by a decrease of protein kinase A levels compared to protein kinase A levels measured in previous samples of the patient. 
     
     
         2 . Protein kinase A for use according to any of  claim 1 , wherein the sample is selected from a blood sample, scrum sample, plasma sample, saliva sample, a urine sample or any other body fluid sample. 
     
     
         3 . Protein kinase A for use in monitoring efficacy of an ASD treatment in an ASD phenotype 1 patient, wherein protein kinase A levels are measured in a sample of the patient and wherein a positive response to the ASD treatment is characterized by an increase of protein kinase A levels in comparison to baseline protein kinase A levels of the patient prior to treatment. 
     
     
         4 . Protein kinase A for use according to  claim 3 , wherein an insufficient response to the ASD treatment is characterized by the absence of an increase of protein kinase A levels in comparison to baseline protein kinase A levels of the patient prior to treatment. 
     
     
         5 . Protein kinase A for use according to  claim 3 , wherein a cessation of response to the ASD treatment is characterized by a decrease of protein kinase A levels in comparison to protein kinase A levels measured during a positive response to the ASD treatment and wherein the ASD treatment is consequently increased. 
     
     
         6 . Protein kinase A for use according to  claim 3 , wherein the sample is selected from a blood sample, serum sample, plasma sample, saliva sample, a urine sample or any other body fluid sample. 
     
     
         7 . A method for diagnosing ASD phenotype 1 in an ASD patient, the method comprising:
 assessing protein kinase A levels in an age- and sex-control sample;   providing a sample from the patient to be diagnosed, and   measuring protein kinase A levels in the sample, and   if the protein kinase A levels measured in the sample are lower than protein kinase A levels in an age- and sex-matched control sample, diagnosing ASD phenotype 1.   
     
     
         8 . A method for monitoring variation in ASD severity in an ASD phenotype 1 patient, the method comprising
 providing a sample from the patient, and   measuring protein kinase A levels in the sample, wherein an increase in ASP severity is characterized by a decrease of protein kinase A levels compared to protein kinase A levels measured in previous samples of the patient.   
     
     
         9 . The method according to  claim 8 , wherein the sample is selected from a blood sample, serum sample, plasma sample, saliva sample, a urine sample or any other body fluid sample. 
     
     
         10 . A method for monitoring efficacy of an ASD treatment in an ASD phenotype 1 patient, the method comprising
 providing a sample from the patient, and   measuring protein kinase A levels in the sample.   
     
     
         11 . The method according to  claim 10 , wherein a positive response to the ASD treatment is characterized by an increase of protein kinase A levels in comparison to baseline protein kinase A levels of the patient prior to treatment. 
     
     
         12 . The method according to  claim 10 , wherein an insufficient response to the ASD treatment is characterized by the absence of an increase of protein kinase A levels in comparison to baseline protein kinase A levels of the patient prior to treatment. 
     
     
         13 . The method according to  claim 10 , wherein a cessation of response to treatment is characterized by a decrease of protein kinase A levels in comparison to levels measured in patient during periods where treatment is efficient. 
     
     
         14 . Method according to  claim 7 , wherein the sample is selected from a blood sample, serum sample, plasma sample, saliva sample, a urine sample or any other body fluid sample. 
     
     
         15 . Kit for use in addressing issues pertaining to ASD phenotype 1 in an ASD patient, the kit comprising means to measure protein kinase A levels in a sample of the patient, the kit further comprising at least one of means for formulating a diagnosis of ASD phenotype 1 in the patient, means for ascertaining ASD disease activity in the patient, means for monitoring afficacy of an ASP treatment in the patient. 
     
     
         16 . (canceled) 
     
     
         17 . (canceled)