Emory to conduct study of possible autism blood test

ATLANTA -- Emory University is a site for the largest autism diagnosis study, reports 11Alive's partner Atlanta Business Chronicle, in an article by Urvaksh Karkaria.

Launched by Lexington, Mass.-based SynapDx Corp., the clinical trial will test the viability of a blood test to help doctors identify children with autism at a younger age.

Emory will be one of 20 sites across the U.S. and Canada, and is recruiting previously undiagnosed children between 18 months and 5 years. This is largest prospective, multi-site autism clinical study with 660 children participating, SynapDx said in a statement.

Despite a rampant growing presence of autism (one in 88 children is diagnosed; one in 54 for boys), diagnosis can still be a years-long process for families. Children can exhibit symptoms of autism spectrum disorders before 18 months, but the current average age of diagnosis is 4.5 years - past the age where behavioral therapies can begin.

SynapDx's blood test measures differences in the RNA gene expression, which can help families assess their child's risk factor, helping clinicians make faster, more accurate referral decisions.

SynapDx's test measures amounts of RNA which are copied from each of many different genes. Those amounts of RNA are influenced by a person's genes and environment. For each gene, the amount of RNA copied determines how much protein is made. The RNA and resulting proteins dictate many functions in the body, including how the brain develops, effecting speech, behavioral and social skill development.

While there is not one specific gene that determines whether or not a child has ASD, researchers have found that children with autism have different amounts of certain RNA sequences.

Measuring this unique pattern of RNA differences forms the basis of SynapDx's proprietary test. The test provides an ASD risk score for each child and is designed to be ordered by a physician and performed in SynapDx's lab.

11Alive News spoke by phone Tuesday with the CEO of SynapDx Corp., Stan Lapidus, who emphasizedhow important it is to match, as early as possible, children who have autism with the appropriate treatments:

Today there are no drugs for autism, but there is behavioral therapy. This blood test may be able to show that the child is at elevated risk for a diagnosis of an Autism Spectrum Disorder, and that, therefore, a prompt referral is called for. Our test is meant to be used in a primary, pediatric setting, when a parent or a physician has a concern about a child's symptoms, and the physician or the parents wish to rule in or to rule out a diagnosis of autism. And making their diagnosis as young as possible is important.

The parents [who participate with their children in the clinical trials] can expect a meticulous, clinical diagnosis at Emory and at the other participating centers. The results of the blood test are blinded. They won't be revealed to us until the very end. And they won't be revealed to the parents, at all. Parents who participate are participating because they believe it will be valuable for the future of medicine, for the future of children who have symptoms that might be associated with autism.

Autism is a disorder for which early intervention improves outcomes. Too many children do not have the benefit of early intervention. This is a very tough call for pediatricians [who attempt to diagnose the cause of the symptoms]. We hope our test will play a small but important role in getting kids into a developmental medicine setting, into a full work-up, at a younger age.

Parents who want more information about the study and about enrolling their children in the study can call Meagan Smith at Emory, 404-778-8528.

Smith emailed 11Alive News Tuesday with this statement about Emory's involvement and the need for 50 children to participate:

Emory is 1 of 20 centers nationwide that is participating in a clinical trial sponsored by SynapDx. The purpose of the trial is to develop and evaluate a blood test that could be used to help doctors to identify children who may have a specific developmental disorder known as Autism Spectrum Disorder (ASD).

Emory researchers are seeking children between 18-60 months of age who have been referred to a developmental center for the evaluation of a possible developmental disorder.

In order to be included in the study they cannot already have a known diagnosis of autism.

Children participating in the study will be referred to the Emory Department of Human Genetics and the Emory Autism Center to undergo a physical exam by a developmental pediatrician, diagnostic testing for determining autism or other developmental disabilities, and a blood draw (approximately 1tsp). Researchers will use this blood sample to study the RNA levels in the blood to determine whether there are different genetic patterns in the blood of individuals diagnosed with autism and those found not to have autism.

Researchers hope this study will allow them to use the blood test in the future to diagnose children at risk for autism at earlier ages.

Parents who would like more information about this study may call Meagan Smith, MS, Genetic Counselor at the Emory Clinic Department of Human Genetics at 404-778-8528.


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