Autism spectrum disorder is characterized by social interaction difficulties, communication challenges and a tendency to engage in repetitive behaviors. According to 2012 figures issued by the Centers for Disease Control and Prevention, autism affects 1 in 68 U.S. births. In 2014, the CDC pronounced autism the fastest-growing developmental disability in the U.S. There is no cure and no FDA-approved treatment specifically for autism.
“There is a big unmet need,” says Dr. Tony Ortiz, a clinical investigator and the scientific director at NRC Research Institute in Orange. Over his 20-year career, he’s aided in the investigation of schizophrenia, depression, ADHD and Alzheimer’s disease. “The key to finding a treatment,” he explains, “is identifying a biomarker.” Researchers use the biomarker as a measurement tool with which to gauge the effectiveness of treatment. In diabetes, for instance, the biomarker is glucose.
The discovery of a possible autism biomarker is what makes the Curemark Blüm Trial being conducted at NRC unique. Ortiz explains that the focus of the trial is the digestive enzyme chymotrypsin.
In Curemark’s earlier work, it was discovered that this enzyme, which aids in the digestion of protein, is lacking in many children with autism. A deficiency of chymotrypsin can result in impaired protein digestion and can also be the source of the self-restricted, carb-heavy diets seen in many patients with autism.
Ortiz goes on to say that protein plays an important role in the body’s creation of essential amino acids, which are the building blocks of critical neurotransmitters such as serotonin and dopamine. Curemark hypothesizes that if an inability to process protein is depleting essential amino acids, then replacing this enzyme may increase the pool of available amino acids, thereby aiding neurological function and possibly improving symptoms of autism.
“One should always be wary,” Ortiz warns, “especially in this industry, of anyone who tells you they have a cure. We are working on a treatment.”
Autism is treated using behavioral therapy, medications such as Risperdal and Abilify that are FDA-approved for irritability associated with autistim spectrum disorder, off-label medications and a variety of what Ortiz terms “infusions, vitamins and tinctures.”
“In clinical research, parents come in with a lot of hope,” Ortiz says. “And I have to break it to them. I try to say it tactfully. I tell them we are measuring symptoms and we’ll see if there is any improvement or change.”
For patients with autism and their parents, even a decrease in the intensity of the symptoms can be a relief. A successful treatment may promote earlier speech development and might lower levels of frustration that often result in self-injury.
The Curemark Blüm Study brochure proclaims, “No Pills. No needles.” In this trial, the proprietary enzyme is administered in powder form three times daily.
The powder is “synthesized from porcine products,” Ortiz explains. For this reason, an allergy to pork excludes patients from the study. Patients must be between the ages of 3 and 8 and meet the diagnostic requirements for autism spectrum disorder to be eligible for the study.
For the purposes of the study, the patient must not be taking any other medications and can’t have any other significant medical or neurological conditions.
The trial is broken into two phases. During the first phase, known as a “double blind study,” participants are randomly chosen to be given either the drug or a placebo. After 14 weeks, all participants are placed into what is known as the “open label study,” and Curemark will provide the drug free of charge until its approval by the FDA.
While remaining hopeful, Ortiz emphasizes that the medicine is still in the experimental phase. “Even in a Phase 3 trial, there is no reason to be overly optimistic. A lot of medicines fail in Phase 3.”
For more information or to apply for participation in the study, visit the NRC website, nrcresearch.com. Autism information and resources can be found at autismspeaks.org.
