Clinical trial NCT01197131: Urinary Steroid Metabolites in Autism
Official title: Investigation of Urinary Steroid Metabolites in Children With Autism Spectrum Disorder
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Autism
Autism Spectrum Disorder
Keywords: autism
autism spectrum disorder
steroids
steroid metabolites
urinary steroid metabolites
hormone formation
androgen precursor
Lead sponsor: Intersci Research Association, Austria
Sponsor class: OTHER
First posted: 2010-09-09
Enrollment: 160
Sex: ALL
Minimum age (years): 5
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children , age 5-15 years with autism and autism spectrum disorder resident in Austria without other severe or psychiatric disorders.

Brief summary: Deviation of hormone formation within nerve cells and nerve system provides autism spectrum disorder and neurodevelopment retardation through interaction of steroids with neurotransmitter-receptors, calcium-channel receptors and genomic interaction via nuclear steroid receptors.

Urinary steroid metabolites will be compared between children with autism spectrum disorder and healthy controls.

Detailed description: Autism spectrum disorder presents many alterations in amino acid metabolism and in neurotransmitter systems (gamma amino acid system, glutamate-glutamine, nicotine-acid, serotonin-system) . Also alteration in gene activation within nerve cells and lymphocyte cultures encloses over 600 genes, affecting a wide field of enzymes , metabolic pathways and hormone formation. Male hormones and their precursors are often increased and their influence to nerve cell growth and spine formation is evident.

The diagnosis of autism spectrum disorder is made in accordance of criteria of the Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) of the American Psychiatric Association by an experienced and specialised paediatrician or psychologist and /or by an Autism Diagnostic Interview-Revised (ADI-R) or Autism Diagnostic Observation Schedule (ADOS) .

Overnight urine with measurement of quantity and time will be collected and a little part of the urinary samples will be frozen for storage till analysis. Age, weight and length of the children at collection time will be ascertained.

Four stratified groups (autistic boys, girls, and healthy controls, boys and girls, each age 5-15) will be formed.

Urinary samples will further remain anonymous through an Identification-Number (ID).

Analysis of hormones and the most of the known metabolites excreted in urine will be performed by a specialised laboratory using gas chromatography-mass spectrometry (GC/MS) analysis (University Hospital Bern, Steroid Laboratory, Switzerland).

The statistical analysis, with age, gender, weight, diagnosis and hormone analysis results as factors , consists in linear regression analysis to detect deviation in hormone formation and metabolism.

Eligibility criteria: Inclusion Criteria:

* Autism spectrum disorder
* Age 5-15 years

Exclusion Criteria:

* Epilepsia
* Psychotropic medication
* other severe illness

Primary outcomes:
measure: difference in hormone formation and androgen precursors
timeFrame: 3 years
Secondary outcomes:
measure: difference in hormone formation in gender and age
timeFrame: 3 years
Other outcomes:
Locations:
city: Leibnitz
country: Austria
facility: Intersci Research Association
state: Steiermark
Study officials:
affiliation: Intersci Research Association, Austria
name: Johann Kurz, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Hu VW, Nguyen A, Kim KS, Steinberg ME, Sarachana T, Scully MA, Soldin SJ, Luu T, Lee NH. Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS One. 2009 Jun 3;4(6):e5775. doi: 10.1371/journal.pone.0005775.
citation: Hu VW, Sarachana T, Kim KS, Nguyen A, Kulkarni S, Steinberg ME, Luu T, Lai Y, Lee NH. Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res. 2009 Apr;2(2):78-97. doi: 10.1002/aur.73.
citation: Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology. 2001 Nov 13;57(9):1618-28. doi: 10.1212/wnl.57.9.1618.
citation: Geier DA, Geier MR. A prospective assessment of androgen levels in patients with autistic spectrum disorders: biochemical underpinnings and suggested therapies. Neuro Endocrinol Lett. 2007 Oct;28(5):565-73.