Why are we doing this research?
Cincinnati Children’s is conducting a research study, sometimes known as a clinical trial or clinical study, to evaluate a blood test being developed to identify children diagnosed with autism spectrum disorder (ASD).
Researchers want to know if this type of blood test will differentiate children with ASD from children with developmental delays and/or children who are developing normally.
This study will look at 2 ways of diagnosing ASD: the blood test AND standard behavioral testing/observation by a trained psychologist.
Who can participate?
Children, 18 months to 4 years old, who show signs of a developmental disorder or ASD, may be eligible for participation. Typically developing children are also needed for the study.
Your child cannot be in this study if he or she has:
- A diagnosis with a chronic condition that could interfere with a diagnosis of ASD or developmental delay
- A known history of Fragile X, Rett syndrome, Down syndrome, tuberous sclerosis, trisomy 21, inborn errors of metabolism or other genetic disorder that includes some symptoms of autism
- Fetal alcohol syndrome or other serious neurological disorders
- A serious metabolic disorder, psychiatric disorder, or medical condition involving the liver, kidney, pulmonary, cardiovascular or endocrine systems
- A sibling who has already been enrolled in the study
- Previously participated in the study
What will happen in the study?
If your child qualifies and you decide you want your child to be in this research study, your child will come to Cincinnati Children’s 1 to 2 times over the next 2 years. There may also be a follow-up phone call with study staff.
Prior to the visits, we will ask that your child have nothing to eat or drink (except water) for 12 hours. We will try to schedule the study visits for early in the morning to decrease discomfort for your child as much as we can.
The following is a list of some of the tests and procedures that may happen to your child during the study:
- Review of medical history
- Physical exam
- Blood sample collection
- Urine sample collection
- Behavioral and psychological evaluation
Study staff will also review the medical history of the both of the child’s parents and ask questions about his or her mother’s pregnancy. This information is not necessary for your child to enroll in the study.
Your child’s first research study visit will last about 5 hours, during which blood and urine will be collected and your child will have behavioral/psychological evaluation.
Some of the blood collected from your child will be RNA. A part of the RNA, mRNA, will be used for gene expression analysis to evaluate biomarkers and to figure out how these genes may be expressed in autism.
A very small number of children may be asked to return to Cincinnati Children’s 30 to 60 days after their first visit for a second blood sample collection. Your child may be one of these children. This visit will take about 30 minutes. Again, if your child is asked to do this, he or she should not have anything to eat or drink (except water) for 12 hours before the visit.
Finally, you may also be contacted via telephone 2 years after your child’s first research visit and asked about his or her diagnosis and if it has changed. You and your child may also be asked to return to Cincinnati Children’s for a second behavioral/psychological evaluation.
Parents interested in having their child participate will be given a consent form that thoroughly explains all of the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.
What are the good things that can happen from this research?
Your child may not receive any direct benefits from being in this research study. As part of this research, your child will receive behavioral/psychological testing at no charge. At your request, we will give you copies of your child’s test results for your records. You will be able to share these results with anyone you choose. Documentation of behavioral/psychological testing may be used for interactions with schools or other institutions or support services.
We hope the information learned from this research study may also benefit other people with developmental delays or autism spectrum disorders in the future.
There is no intention of returning genetic results to the study participants. Your child’s laboratory results are for research purposes only and will be used to develop this diagnostic test.
What are the bad things that can happen from this research?
Your child may experience some risks during this study. Common risks include pain, bruising and, rarely, infection at the location where blood is taken. A trained professional will take your child’s blood to minimize these risks and discomforts.
Other possible risks include discomfort due to fasting as well as anxiety or nervousness during the procedures and tests.
A detailed list of possible side effects will be provided to those participants, parents or guardians interested in knowing more about this study.