NeuroPointDX to Present Precision Medicine Approaches to Diagnosing and Treating Autism at National TACA Autism Conference

“By identifying metabolic imbalances in children with ASD, we have developed an effective testing approach that can aid in earlier diagnosis of autism and help define more precise treatment based on the underlying metabolism of the individual,” said Elizabeth Donley, the company’s Chief Executive Officer. “The first data from CAMP, published last September in Biological Psychiatry, found imbalances in about 17% of children with ASD in amino acids that are important to typical neurodevelopment. This enabled the identification of metabolic subtypes that indicate an increased risk of an ASD diagnosis. Our scientists continue to analyze the valuable samples and extensive CAMP data set. They have made recent findings in the areas of purine metabolism, energy metabolism, and mitochondrial dysfunction. We intend to publish this work to share the new data with the scientific community in the coming months.”

The annual conference, sponsored by The Autism Community in Action (TACA), is being held from March 22-24 in Atlanta, Georgia. NeuroPointDX will present its approach and the CAMP data on March 23rd, 2:30 - 3:25 pm ET, entitled “Metabolism-Based Diagnosis and Precision Medicine for ASD.”

Based on the initial published CAMP data and other subsequent findings, NeuroPointDX began a limited launch at the end of 2018 of its NPDX ASD test, a blood test provided through NeuroPointDX’s CLIA-certified laboratory. The test identifies metabolic subtypes affecting about 30% of children with ASD, and for a subset of these children, may help inform a more precise treatment strategy.

“Early diagnosis of ASD is important because the benefit of therapeutic intervention is greater the earlier it is begun. Gene-based test panels are able to detect only 1-5% of clinical ASD, and today most children do not receive a diagnosis based on standardized behavior screens and questionnaires before age 4.5 years,” said Ms. Donley. “The NPDX ASD test is the first step in defining a biological basis for ASD, which could lead to more precise treatments based on specifically identified metabolic dysregulations. Such biomarker-based tests will also be essential for precisely monitoring a patient’s response to new therapies.”

The initial findings of the CAMP study identified metabolic subtypes in children with ASD, which were related to imbalances in branched chain amino acids (BCAAs, which include leucine, isoleucine, and valine). There is supporting evidence in the scientific literature from humans with a rare genetic variant affecting BCAA metabolism and in a rodent model of this genetic defect that children with such metabolic dysregulations should respond beneficially to treatment with a BCAA/protein supplement that is formulated to correct the imbalance.

Working with a pediatric nutritional specialist in amino acid metabolism and neurodevelopment, NeuroPointDX is planning to conduct a clinical trial of a BCAA/high protein supplement specifically formulated for children who have been identified through the CAMP study as having specific BCAA-related metabolic subtypes of ASD. BCAAs are essential amino acids that humans must obtain through foods, and dietary supplements of this type have long been known to be safe.

About NeuroPointDX

NeuroPointDX, a business unit of Stemina Biomarker Discovery, is bringing a precision medicine approach to the diagnosis and treatment of neurological disorders through the application of world-class metabolomics. The company’s current focus is autism spectrum disorder (ASD). NeuroPointDX has developed and is commercializing testing panels to aid in the early diagnosis of ASD through its CLIA-certified laboratory.

The NPDX ASD test identifies children with specific metabolic subtypes associated with ASD. The test may be used to screen children as young as 18 months. The NPDX ASD test also provides metabolic information that may be used to inform a more precise treatment strategy for a child with ASD.

The metabolic subtypes were identified and validated in children 18-48 months old in the Children’s Autism Metabolome Project (CAMP), the largest clinical study of metabolism of children with ASD conducted to date.

For more information, please visit our website at http://www.NeuropointDX.com.

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