Children with autism spectrum disorder (ASD) can face a lifetime of frustration because of challenges with communication, social behaviors and flexibility of thought. Early intervention can improve outcomes, but nailing a diagnosis of ASD often takes years. Cognoa Inc. wants to change that with its digital ASD Diagnostic and is on track to apply for U.S. FDA clearance before the end of the year.

“We’re submitting a package for de novo application in the fourth quarter of this year,” David Happel, Cognoa’s CEO, told BioWorld.

The Palo Alto, Calif.-based company snagged an FDA breakthrough device designation for the ASD Diagnostic device in October 2018, paving the way for a priority review. With such reviews averaging eight to nine months, Happel anticipates gaining FDA clearance early in the second half of 2021 and launching the product about eight weeks after that.

Need for earlier diagnosis

Approximately 1 in 54 children in the U.S. is diagnosed with ASD, according to the CDC. Getting to that diagnosis, however, can be laborious.

Once concerns have been raised about a child’s developmental progress, a pediatrician refers the parents to a specialist who puts the child through a battery of tests, assesses the results and makes a diagnosis. This can take anywhere from six to 18 months, Happel said, citing a lack of specialists who perform ASD evaluations. Although the condition typically start to present between 14 and 18 months, the average diagnosis is about four-and-a-half years of age.

By contrast, Cognoa’s prescription diagnostic leverages artificial intelligence (AI) and machine learning to quickly assess whether a child has autism or an autism spectrum disorder as soon as concerns arise.

The device has three modules. First, the parent or caregiver inputs data – a questionnaire and videos – via Cognoa’s parent/caregiver-facing mobile app. The one-to-two minute videos are filmed in the child’s natural environment to avoid creating stress and discomfort. Next, a pediatrician completes an assessment with the child, which they input into Cognoa’s platform. Cognoa’s AI then combines the parent/caregiver and pediatrician inputs to produce a result.

The videos are also forwarded to an expert in dealing with autism, trained and employed by Cognoa, for observation and assessment, who completes a questionnaire about their observations and feeds that into the AI as well.

The ASD Diagnostic can be downloaded to a hand-held device and performed in the primary care setting. The entire process takes anywhere from two to six weeks.

Pivotal study

In a pivotal study of 425 children ages 18 to 72 months whose parents had expressed concern about their development but had never undergone evaluation, Cognoa’s ASD Diagnostic surpassed its targeted benchmarks, the company said.

The multisite study, prospective, double-blind, active comparator study, which ran from July 2019 through May 2020, assessed the ASD Diagnostic’s ability to aid in the diagnosis of autism spectrum disorder by comparing diagnostic output with the clinical reference standard, which is a specialist clinician’s diagnosis, based on DSM-5 criteria and validated by one or more reviewing specialists. The goal was to determine how often the device correctly identified a patient with ASD and how often it concluded that a patient does not have the condition.

“It was exceptionally accurate to rule in or rule out autism to the degree that it easily surpassed the thresholds that we identified with the FDA for the point estimates,” Happel said. The results are being prepared for publication in a peer-reviewed journal.

He believes Cognoa’s device offers a real advancement in ASD diagnosis. It gives doctors a consistent and reliable diagnostic instrument that will accurately determine whether the child has autism that can be evaluated at the pediatrician level. And, perhaps equally important, it removes all bias when evaluating the child.

According to Happel, there are significant biases around how the condition is diagnosed, based on gender, race and other factors. For example, young Caucasian boys are most often considered to be at highest risk of having an autism diagnosis – four times more so than a girls of the same age.

“It’s not because boys are four times more likely to get autism. It’s the fact that girls present differently, as do individuals with different race, culture, ethnicity and socioeconomic status,” he said. “Our instrument is able to sort through that because it’s trained on hundreds of thousands of unique profiles, which allows it to remove the noise and agnostically make a diagnosis.”

Cognoa’s approach aligns with the most recent guidelines of the American Academy of Pediatrics, which is pushing for more ASD diagnoses to be made at the pediatrician level.

Robust pipeline

Cognoa is also developing a digital therapeutic for ASD. The company recently completed a 30-patient engagement study to determine the usability of hand-held devices for individuals living with autism and ASD.

Also accorded breakthrough status by the FDA, the ASD therapeutic was developed by Cognoa founder Dennis Wall, an associate professor of pediatrics and biomedical data science at Stanford University. “He’s been primarily working with wearable devices such as Google Glass and another program,” Happel said, adding the work has shown remarkable promise in helping people with autism recognize facial expressions, eye contact and emotions.

The company is working with Wall to put together a clinical trial next year to assess the value of the programs and when they might have the most benefit for patients.

“There’s an enormous amount of literature in the space that, particularly for medium to high functioning individuals that are autistic or on the spectrum, if you can get them diagnosed early enough, you can … effect these patterns in their developmental windows at a much earlier age, which will allow them either to, hopefully, reach a nondiagnosis at some point … or at least participate in a mainstream educational curricula and in system that can support that,” Happel said.

In addition to the ASD products, Cognoa is also developing a digital diagnostic for attention deficit hyperactivity disorder (ADHD) and speech and language. The ADHD tool may eventually be combined with the ASD Diagnostic, Happel said.

Other pipeline programs, still in the discovery stage, include an ADHD therapeutic and a diagnostic and therapeutic for anxiety.


To date, Cognoa has raised about $60 million to advance its behavioral health solutions. It is currently talking with potential investors for a follow-on to its series A financing, with plans to close at the beginning of 2021. Those funds should get it through FDA clearance and commercial launch of the ASD Diagnostic and at least one other pipeline project, Happel said.

The company also plans further enhancements for the ASD Diagnostic, including a Spanish version and eventually more languages to expand its use in OUS markets.

Cognoa will begin working on obtaining CE mark approval after it files its submission with the FDA, Happel said.