Study Details
 /  Study Details

Background
Autism spectrum disorder (ASD) is now diagnosed in 1 of 68 children, with recent reports citing as many as 1 in 45 children in the United States, according to the Centers for Disease Control’s Autism and Developmental Disabilities Monitory (ADDM). Diagnosis is complicated and requires a referral to a behavioral pediatrician, child psychiatrist, or developmental psychologist.

Parents and pediatricians may have a hard time identifying autism early in life because children develop at different rates and there is a tendency to wait, hoping the child will “catch up.” Further, the wait time from referral to specialist examination might be a year, or even more! A child with autism might miss out on important time when behavioral therapy could have helped to alleviate symptoms and led to a better long-term outcome.

Refining Current Treatments
Currently, many ASD patients are treated with a modified diet, dietary supplements, and vitamins, with little precision regarding the most effective treatment for the child. Though these interventions sometimes improve behavioral and cognitive performance, parents and families are often disappointed in the results.

Identifying a child’s specific metabolomic profile will provide information that could suggest a specific altered diet or supplement is appropriate and likely to make a positive impact, which could lead to more effective outcomes.

Objectives
The purpose of this study is to identify one or more metabolite signatures in blood plasma and/or urine that differentiate children with autism from typically-developing children. This could lead to the development of testing that maximizes the accuracy of the diagnosis at younger ages.

The secondary objective of the research is to define the metabolites capable of classifying subtypes of autism that may increase understanding of the metabolic basis of the condition. Once these subtypes are defined, further studies can be performed to determine whether personalized treatments can be developed to improve outcomes.

Relevance
A reliable biomarker-based test for diagnosing autism is needed. Earlier diagnosis of ASD may improve outcomes, which could lead to better communication skills and higher cognitive and social function.

Furthermore, earlier diagnosis could also alleviate the financial and emotional burden on families and, ultimately, on society. Children who receive early intensive treatment have often shown significant improvement; many do not even require special education accommodation.

The better we understand who will respond to a particular treatment, the more effective that treatment is likely to be in clinical trials. This, in turn, will pave the way for new therapies and diagnostic tests to be adopted.

Additional Information
The Mullen Scales of Early Learning (MSEL), which helps determine the developmental status of a child, will be administered to all children participating in the study.

Based on the results of the MSEL, each child will receive one of the following behavioral tests:

  • ADOS-2 (Autism Diagnostic Observation Schedule, Second Edition): If it is determined that a child is developmentally delayed, he or she may receive this test, which is used to diagnose autism.
  • DSM-V (Diagnostic and Statistical Manual of Mental Disorders) checklist: If it is determined that a child is developmentally delayed, he or she may receive this test, which is used to diagnose autism.
  • SCQ (Social Communications Questionnaire): If it is determined that the child is developing typically, he or she will receive this test.

Some of the blood collected from your child will be used for metabolomic analysis; some will be used for RNA analysis. Metabolomics is the study of an individual’s metabolism. A specific type of RNA, mRNA, will be studied for gene expression to evaluate biomarkers and gene expression in autism.

We may encourage you to return to the site where the initial tests were administered 30 to 60 days after their first visit for a second blood sample collection. This visit will take about 30 minutes. If your child is asked to do this, we ask that he or she not have anything to eat or drink (except water) for 12 hours before the visit. Participating in this second visit helps to evaluate the robustness and reproducibility of biomarkers discovered in the study.

Finally, you may also be contacted by study management personnel up to two years after the initial visit to answer more detailed questions and follow up on your child’s developmental status. You and your child may also be asked to return to the site for a second behavioral/psychological evaluation.

Parents interested in having their child participate will be given a consent form that thoroughly explains all details regarding the study. A member of the study staff will review the consent form with you and will be sure that your questions are answered.

As part of this research, your child will receive behavioral/psychological testing at no charge to you. At your request, we will provide your child’s test results for your records. You may share these results with anyone you choose. For example, documentation of behavioral/psychological testing may be used for interactions with schools or other institutions or support services.

To enhance the value of your participation, families may elect to add to the National Institute of Mental Health (NIMH) Repository and Genomics Resource. If you choose to participate, NIMH will receive a small portion of the blood and urine samples we collect. Using the genetic materials of thousands of children across a wide range of studies, NIMH may be able to learn more about the nature of ASD and other conditions affecting the neurodevelopment of children. (Your child’s individual results, however, will not be available.)

Please note: Taking part in this research study does not necessarily mean you can’t also participation in other, similar studies.

For complete details, visit clinicaltrials.gov and search for Children’s Autism Metabolome Project.

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Madison, WI 53719

contact@NeuroPointDx.com