NEW YORK—Considered a groundbreaking discovery for some children with autism spectrum disorder (ASD), biotech Q BioMed Inc. recently found two novel biomarkers for pediatric nonverbal autism, reportedly marking the first time a company has identified biomarkers that hold the potential to stratify an ASD subset of children as young as 18 months. It is hoped this discovery could lead to an effective treatment for children destined to grow up with little or no ability to speak.
Q BioMed recently examined 1,953 significant autistic biomarkers, resulting in two significant markers tied to expressed genes and pathways responsible for speech development, using Vineland II scores to stratify 240 children into three groups: verbal, semi-verbal and nonverbal autism. Researchers found that biomarkers in the nonverbal subset were distinct from children with typical speech development, with or without autism.
“This is a major breakthrough for these children and their families,” says Denis Corin, CEO of Q BioMed. “To date, very little attention and research has been focused on these nonverbal autistic children. In partnership with the clinical and advocacy community, Q BioMed is leading the effort to better stratify this group, while also pursuing a treatment.”
Children of this subset typically never develop the ability to speak, or else commence with language progression from between the ages of nine months to 14 months and then regress. Most psychologists and physicians provide a diagnosis of nonverbal around the age of seven years, which is far too late for early intervention.
“Children with ASD need safe, effective and targeted treatments that are tested under conditions that take their best interests into consideration,” Corin says. Q BioMed “ensures we continue to take a tailored and patient-centric approach to find those children who will benefit the most from our efforts.”
A key finding to the biomarker study was the identification of known genes and pathways directly implicated in speech impairment.
QBM-001 targets toddlers with pediatric nonverbal autism, where underlying commonalities—reinforced by this current biomarker study—lead to developmental delay, an autism diagnosis and eventual nonverbal or very minimally verbal capability for the rest of their lives.
Robert Derham, vice president of corporate development and orphan products at Q BioMed, told DDNews: “Currently, Q BioMed is developing a product to treat a subtype of autism referred to as pediatric minimally verbal autism (PMVA), which comprises the group of autistic children that are often referred to as having ‘severe autism.’ Some in this group never develop language, while others start with some early language development and then regress by the age of 24 months. Unfortunately, speech intervention has provided very little help for children with PMVA.”
Some hallmarks of children with PMVA are “notable sleep disturbances, taste sensitivities and in general, heightened sensory excitability, which often manifests as anxiety,” Derham says. “These children have a high tendency to show aggression, inflict self-injury, have a low capacity for sustained attention and have severe and persistent developmental delay. Ultimately, these children have severely limited social interactions and are dependent on care for the duration of their lives.”
A PMVA diagnosis is based on an IQ score of 50 or below, less than 20 spoken works, and the inability to develop sentences, or what is referred to as “phrase speech” after speech intervention with a trained healthcare professional, he says. A goal of Q BioMed’s is to change to a biomarker approach, thus removing the variability of observational and assessment tests that base a diagnosis on speech, IQ and symptomatic behavior.
“Fortunately, the study we undertook revealed a strand of microRNA that was only elevated in children with PMVA,” Derham notes. “This paved the path for the next step of validating this as a biomarker. Equally important, was that the results of the biomarker study confirmed that we are on the right path with our treatment.”
Another very important aspect is that autism and the treatment of it is not a ‘one size fits all,’ he remarks. “Before the early 1970s, we tried to treat cancer as a singular disease. Now, we would never attempt that. The therapeutic approach for autism is still similar to how cancer was treated before the early 70s, but the research is progressing and establishing clear subtypes. The more information we have about these unique subtypes, the more researchers will be able to figure out what pathways in the body are disrupted in each subtype, and industry will be able to start developing treatments that target more subtypes, instead of trying to treat general autism.”
For instance, researchers noticed “distinct differences in PMVA based on pathways in the body that were not functioning correctly,” he says. “Research has shown the regions of the brain tied to speech in these children with PMVA are smaller and underdeveloped than other children with autism, and they have elevated inflammation markers in their brain.”
Q BioMed’s therapy, QBM-001 “targets three disrupted pathways to ameliorate the condition of these children,” Derham explains. “It is our hope that it will ultimately allow them to develop on a more typical path and enable them to speak if they are treated early enough.”
Derham tells DDNews that the company is finalizing plans for a study to validate the biomarker for PMVA, in addition to preparing regulatory filings for the study and for an Orphan Drug designation for QBM-001. The plan is to file for an IND by the end of 2019 or early 2020 and initiate a clinical trial before the end of Q1 2020.