The underlying biology behind autism is largely a mystery, and you need look no further than how it’s diagnosed for the evidence.
A child has to go through a series of behavioral evaluations before a team of experts label him or her with the disorder and begin treatment. Unfortunately, statistics from the Centers for Disease Control and Prevention show this is most likely to happen when the child is already at least four years old, when it is less likely that treatment will have a profound effect. This inefficiency is right where veteran diagnostics entrepreneur Stanley Lapidus thinks his four-year-old startup, SynapDx, can help—and he’s now got some big-name venture backers and a big roll of cash to prove it.
Lexington, MA-based SynapDx has raised $15.4 million in equity financing, bringing the total amount it has raised since its inception to at least $32.4 million, according to Lapidus, the company’s president, CEO, and founder. The round was led by two new investors, Google Ventures and Foundation Medical Partners, and included founding investors North Bridge Venture Partners and General Catalyst Partners. Kraft Group and LabCorp (NYSE: LH) have also recently invested in the company.
SynapDx will use the cash to bankroll a 660-patient, 20-site study in the U.S. and Canada for the company’s diagnostic, which is a blood-based test that determines whether a young child possesses certain biomarkers that researchers believe put him or her at high risk for autism. SynapDx is enrolling children between the ages of 18 months and 60 months that have been referred by doctors because they have shown signs of autism. Lapidus declined to specify how far along SynapDx is in the study, or when he expects the company to finish it. But SynapDx hopes the trial will give the company enough evidence to win approval from regulators and begin marketing the diagnostic to primary pediatricians.
SynapDx was started up in 2009 by Lapidus, who is perhaps best known for founding women’s health diagnostics firm Cytyc and selling it for a fortune—$6.2 billion—to Bedford, MA-based Hologic (NASDAQ: Hologic) in 2007. Lapidus became interested in autism in the summer of 2009, knowing that because the underlying biology is so misunderstood, any impact that he could make on the field could be massive. He met two researchers at Children’s Hospital in Boston in 2009, Isaac Kohane and Louis Kunkel, who showed him some data indicating that one could look at RNA expression in blood samples to differentiate between autistic and non-autistic children. Intrigued by the idea, Lapidus licensed the technology and started up SynapDx with a $9 million round led by Bain Capital Ventures, General Catalyst, and North Bridge.
Lapidus saw an opportunity in the inefficient way in which autism is ultimately diagnosed. Typically, a child first shows signs of developmental disorder, such as repetitive behavior, taking too long to speak, not making eye contact, or having uncontrollable temper tantrums, and is brought to an expert or group of experts—developmental pediatricians, child neurologists, psychiatrists, and speech pathologists, for example—for a battery of behavioral tests. The experts then essentially decide whether or not the child is autistic based on the results.
The test SynapDx has created, however, would change all that by giving clinicians a biomarker to look at that could lead to a much earlier diagnosis. With the test, clinicians analyze blood samples for certain changes in RNA expression patterns in white blood cells that indicate either altered immune response or neurodevelopment, according to Lapidus. The test isn’t designed to specifically tell if a child has autism, so much as it is meant to show that a child is at increased risk for it by testing positive for certain RNA expression patterns.
“It is not meant to be a substitute for expert diagnosis, but if our premise is true, what will happen is children will be referred for comprehensive evaluation at a younger age—perhaps up to two years or three years earlier than they are today,” he says.
The big advantage of this is the effect that early detection has on the success of treatment. Lapidus says that 20 percent of autistic kids who get intensive behavioral therapy before the age of three get the autism label removed, with others getting significant benefits. Even so, most kids with autism—some 80 percent—are diagnosed after the age of three, he says.
“The generally held belief among pediatricians and other providers is that the older the child is when he or she is initially diagnosed, the less likely the child is to make a profound improvement,” he says.
SynapDx has already done a pilot study of its test, and while it hasn’t released the results publicly, they were good enough to convince investors to put a $6 million round together in December and design the massive trial that is currently underway.
In that trial, SynapDx is enrolling children who Lapidus says are given a full clinical evaluation and referred by a physician for “suspected developmental delay.” Clinicians then take blood samples and run them. The goal of the trial, Lapidus says, is to show how well SynapDx does “in correlation to typical clinical diagnosis”—basically, to prove that the diagnostic works.
If SynapDx can do so, there’s clearly a sizeable potential market to go after. Lapidus says that in the U.S., annually, there are about 50,000 to 60,000 children diagnosed with autism, 120,000 to 180,000 referrals to a behavioral evaluation, and about 500,000 children that fail a developmental test given by a pediatrician to look for potential signs.
SynapDx’s hope is that a pediatrician with concerns about the development of a child would order the test and do an immediate referral if the test is positive, speeding the time towards diagnosis. This, in turn, would give SynapDx the chance to begin to make a big dent in the market.
“That’s the way we broadly think about the upside of the business,” he says. “But in the early days it’s smaller, you build it, you gain credibility, and you hope that your claims are aligned with your science—you never get ahead of that—and [then] you have the opportunity to build a substantial business.”