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

March 19, 2019 Off By BusinessWire

Company Will Present New Data from the 1,100 Patient Clinical
Study, the Children’s Autism Metabolome Project (CAMP)

MADISON, Wis.–(BUSINESS WIRE)–NeuroPointDX, a business unit of Stemina Biomarker Discovery, today
announced the company will present recent data from the Children’s
Autism Metabolome Project (CAMP ), its large, comprehensive clinical
study, supporting its precision medicine approach to the diagnosis and
treatment of autism spectrum disorder (ASD) at the National TACA Autism
Conference. CAMP is the largest clinical study of the metabolism of
children with ASD conducted to date by more than 500 patients. Data from
the study is the underpinning of NeuroPointDX’s efforts to improve the
diagnosis and treatment of children with ASD.

“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.