Date: 2013-10-28
Type of information: Presentation of results at a congress
phase:
Announcement: presentation of results at the American Academy of Child & Adolescent Psychiatry meeting in Orlando, Florida
Company: Integragen (France)
Product: ARISk® Test
Action
mechanism: The ARISk® Autism Risk Assessment Test is a multi-SNP (Single Nucleotide Polymorphism) genetic test which identifies the risk of autism spectrum disorders in children who have older siblings diagnosed with an autism spectrum disorder. The SNPs included in this test were chosen based on gene discovery research conducted by IntegraGen and a review of the literature. Based on this research, 65 specific genetic markers, or SNPs, have been included in the test. These SNPs have been shown to be associated with autism and to assist in determining an individual’s risk for having an ASD diagnosis. Of these 65 SNPs, 8 are associated with ASD in both males and females, 29 in males only and 28 in females only.
Disease: autism
Therapeutic area: Neurodevelopmental diseases
Country:
Trial details:
Latest
news: * On October 28, 2013, IntegraGen, a leading player in the development and marketing of molecular diagnostic testing in autism and oncology, has announced the results of a study that reports the ability to predict the risk of autism spectrum disorder (ASD) in children with signs of developmental delay or autism. The research, presented during the American Academy of Child & Adolescent Psychiatry meeting in Orlando, Florida, reports on the identification of over 1,500 genetic variants shown to be associated with autism. The present study, which included nearly 2,500 children diagnosed with autism and 3,500 controls, builds on research the company previously presented that identified single-nucleotide polymorphisms (SNPs) which predict the risk of autism in children who have an older sibling diagnosed with ASD.
“The delay between first signs of a developmental disorder and the eventual diagnosis of autism and the extended wait time for these children to be referred to and seen by a specialist are major issues facing parents of children with autism,” stated Dr. Bernard Courtieu, IntegraGen’s Chief Executive Officer. “We expect these findings will help contribute to the earlier diagnosis of autism as we incorporate the results of this research into our next generation version of the ARISk® Test permitting physicians to prescribe the test for a broader patient population of children who have early signs of autism but no family history of the disorder. We anticipate the clinical availability of this new test by the end of the year.”
