We don’t know the exact cause of autism – it has both environmental and genetic influences – but we do know that prevalence has increased tenfold in the past few decades, and that early intervention is critical for its treatment.
Key to early intervention, of course, is early diagnosis.
Boston-area startup SynapDx is developing a blood test to help diagnose autism, with aims to bring the age of diagnosis much lower than it is today. Its test, which identifies biomarkers that the company itself has found associated with autism, is meant to be given to kids who are showing symptoms of an autism spectrum disorder.
“Our idea was to create a simple blood test to look at markers in the blood associated with autism, but not with other developmental disorders,” CEO Stanley Lapidus said.
So far, the company’s finding that the test is showing 90 percent sensitivity, but Lapidus is keeping mum on when it plans to commercialize its product. But it’s certainly well-capitalized for the job – since its launch in 2009, SynapDx has raised about $34 million, with its most recent round of $15.4 million provided by Google Ventures in 2013.
SynapDx has been cherry-picked to be featured in next week’s TedMed Hive.
Autism prevalence has skyrocketed in the past couple decades; about 1 in 68 children are diagnosed with autism, according to the CDC. While it’s a painful diagnosis for a family to receive, not only do the severity of symptoms vary, but early interventional treatment has been shown to work wonders in many patients. Because of this, early diagnosis is critical to make the most impact in a child with this diagnosis. Indeed, the label of autism can even be removed entirely in about 20 percent of kids who receive behavioral therapy.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
The problem, however, is that the median age for diagnosis is around 4 years of age. Parents start noticing something’s amiss around 18 months of age – but it’s difficult to pinpoint whether a child has autism, or is simply developmentally delayed and will soon catch up. SynapDx aims to bring the age of diagnosis much lower, to help parents start therapy faster. It’s currently conducting a study in 880 kids, age 18 months to 5 years, across the U.S. and Canada to determine not only the test’s efficacy, but the age in which it can be diagnosed. So far, the autism test is showing about 90 percent sensitivity at the high end, Lapidus said.
Here’s a video from the company that describes how the SynapDx test works. In brief: The test measures the amounts of RNA copied from a number of genes associated with autism; as RNA and the resulting proteins it codes for dictate many functions in the body, including brain development, measuring the RNA expression levels could provide a clue into how likely a child is to have an autism spectrum disorder.
