Future Studies

Children's Autism Metabolome Project (CAMP) II

Branched Chain Amino Acids (BCAA) Dysregulation Subtype Study

Building on our clinical validation of our test in Children’s Autism Metabolome Project (CAMP) I, the next phase of NeuroPointDX’s research will focus on validating the efficacy of improving imbalances of branched chain amino acids (BCAA) for treatment of ASD. In this randomized clinical trial, a precision medicine / therapeutic targeted approach will be taken to improve an imbalance of BCAA for a specific metabolomic subtype identified in CAMP I. This study will be directed by medical researchers, including those with expertise in nutritional sciences, who will formulate a BCAA supplement to be administered to children participating in the study.

Primary Objectives

  • Formulate and test safety of a BCAA / protein powder supplement beverage
  • Monitor behavioral signs associated with ASD following supplementation
  • Conduct at multiple clinical sites, including leading autism centers in the country
  • Enroll children aged 18-48 months old

Principal Investigators

Robert E. Burrier, PhD
Chief Operating Officer and Vice President of Research and Development
Stemina Biomarker Discovery, NeuroPointDX Division

Elizabeth L.R. Donley, JD, MBA, MS
Chief Executive Officer
Stemina Biomarker Discovery, NeuroPointDX Division


Michael Ludwig, MS
CLIA Laboratory Supervisor
Stemina Biomarker Discovery, NeuroPointDX Division

Denise M. Ney, PhD, RDN
Professor of Nutritional Sciences
University of Wisconsin-Madison

Alan M. Smith, PhD
Associate Director of Computational Biology
Stemina Biomarker Discovery, NeuroPointDX Division

CASE STUDY I: One example of treatable metabolism-based cause of disruptions in neurodevelopment is phenylketonuria (PKU), a disorder that causes an amino acid called phenylalanine to build up in the body because of a deficit in the gene that helps create the enzyme needed to break down phenylalanine. It can successfully be treated by changes in diet to eliminate phenylalanine. If left untreated, PKU can lead to brain damage, marked intellectual disability, neurological problems, and behavioral, emotional, and social problems.

CASE STUDY II: A study led by Angels García‐Cazorla of the Department of Neurology, Hospital Sant Joan de Déu (HSJD), CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain, provided proof of concept that BCAA supplementation plus a protein-rich diet was shown to: (1) improve growth, (2) reduce hyperactivity, (3) reduce irritability, and (4) improve communication and socialization in three autistic children. Read about the study and results in their publication (paid access only), García‐Cazorla, A. et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Human Mutation, 2014; 35(4):470-7.

We strive to improve the lives of children and families living with autism spectrum disorder and other neurological disorders by providing tools for earlier diagnosis and more precise treatment.