Autism Detection Holds Investment Potential

The rate at which children are being diagnosed with autism is growing at an alarming rate, with some studies suggesting that one in 88 American children is currently on the autism spectrum. Prevalence has soared over the last four decades and debate is raging over why that increase has occurred. Researchers do not know whether the higher incident rates have to do with better diagnostic tools, genetics, environmental changes or past under-reporting.

Today, patients with Autism Spectrum Disorders (ASDs) are diagnosed using a variety of assessments, including direct observation and medical history. With more patients comes the potential for increased commercialization of better diagnostic tools and genetic markers.

One thing that scientists and researchers can agree on is that the earlier the diagnosis, the greater the opportunity for programs and treatments that will have an impact on behaviour. That can lead to higher IQ scores and improvements in language.

ASDs impact normal brain development and affect a person’s ability to communicate and engage in social interaction. They are characterized by repetitive interests, behaviors and activities and a high attachment to objects or routines.

In the last few months, a number of new, significant studies have opened up the possibility of earlier diagnosis and have shed light on potentially beneficial therapeutics.

One of the bigger findings by researchers at the Boston Children’s Hospital is that a new blood-based exam could detect the developmental disorder by relying on markers in the blood. In a large gene-expression study comprised of 400 ASD cases and controls, researchers at the hospital identified a signature that suggests that a differential expression of certain genes in blood cells may form the basis for an ASD biomarker.

The company behind the blood-based ASD diagnostic test is Lexington, MA-based SynapDX. The company’s blood-test approach, currently in clinical development, measures differences in RNA gene expression to distinguish children at a higher risk of ASDs from those at a lower risk. The test could, the company hopes, hasten the diagnostic process, resulting in earlier evaluations and treatment. Investors in SynapDx, founded in 2010, include North Bridge Venture Partners, General Catalyst Partners and Laboratory Corporation of America (NYSE:LH).

Sequencing and genomic firm Illumina (NASDAQ:ILMN) of San Diego has formed an alliance with SynapDX for its proprietary ASD test. SynapDX has also received $6 million in financing, including an undisclosed amount from the Kraft Group of Foxborough, MA.

Last month, IP Shakti of Princeton, New Jersey, an early stage funder of life sciences technology, announced a partnership aimed at commercializing early autism detection in infants with researchers at Japan’s Shizuoka University. The Autism Eye Gaze Detection System, which has been patented, was designed to address a challenge that other diagnostic tools were missing: the ability to minimize eye-tracking movements in infants.

Currently, the average age of diagnosis for autism is 4.5 years, according to the Centers for Disease Control and Prevention, which most researchers believe is past the age where behavioral therapy would be of the greatest benefit.

Using a system and software developed especially for infants, researchers at Shizuoka University were able to create a diagnostic screening tool that only requires a one-point calibration measurement. The system uses cameras and infrared sources to track the movement of infants’ pupils, a detection tool that can estimate the likelihood of autism.

No other system on the market has such a rapid, one-point-of-gaze format; most other technologies for eye tracking require minimal head movement and a calibration stage that requires patients to look at multiple points, which is difficult for children and toddlers, much less infants.

Therapeutics may also play a role in better controlling symptoms of autism. Seaside Therapeutics of Cambridge, MA is in mid-phase development of its compound STX209 for autism and fragile X syndrome (FSX). In a paper published in Science Translational Medicine last September, Seaside reported that its compound, also known as arbaclofen, can improve social functioning in patients with FXS and ASDs, both of which are neurodevelopmental disorders whose core symptoms currently have no effective pharmacological treatments. Tests undertaken on mice show significant improvement in the preference to be alone and the tendency to be withdrawn or isolated. Social avoidance, a core symptom of ASDs, is linked to FXS, the most common inherited cause of intellectual disability and the most prevalent known cause of autism. FXS is caused by the mutation of a single gene and its symptoms closely resemble those of ASDs.

“There are currently no FDA approved therapeutics that address the core symptoms of fragile X syndrome, leaving patients and their caregivers with limited treatment options,” Dr. Elizabeth Berry-Kravis, professor of pediatrics, neurology and biochemistry at Rush University Medical Center in Chicago, and the lead author of the paper, said in a statement.

Seaside has entered into a collaboration with Basel, Switzerland-based biotech Roche Holding (OTC Pink:RHHBY) to develop its treatments for FXS and ASD.

“Roche is committed to finding new treatments in areas of high unmet need such as autism spectrum disorders,” said Luca Santarelli, global head of Roche Neuroscience.

Roche may exercise options to commercialize STX209 upon completion of certain clinical development phases, but Seaside will continue to lead the clinical development of these programs in the alliance announced last June.

Randy Carpenter, CEO of Seaside, said in a statement that the alliance will align to rapidly advance treatment. “Importantly, this collaboration also provides Seaside with additional resources to complete late-stage clinical development for STX209 which we believe has the potential to change the treatment paradigm for fragile X and autism and thereby help patients and their families achieve an improved quality of life.”

Securities Disclosure: I, Andrew Topf, do not hold equity interests in any of the companies mentioned in this article.