Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Hypocholesterolemic autism spectrum disorder  

Autism spectrum disorder (ASD) is a common neurocognitive defect found in children. Patients with Smith-Lemli-Opitz syndrome (SLOS) have a defect in cholesterol synthesis. The majority of patients with SLOS have autistic symptoms. Researchers in this study have evaluated a cohort of ASD patients for SLOS. Although no SLOS patients were identified, a higher than expected number of children with ASD had hypocholesterolemia. The next research goal is to see if cholesterol levels can be used to define an endophenotype of ASD to identify the genetic cause of ASD in a subset of ASD patients. This will be done by exome/genome sequencing. Also underway is a clinical trial to determine if ASD patients with low cholesterol will respond to dietary cholesterol supplementation. Project Status


Funder National Institutes of Health
Fiscal Year Funding $126,671.00
Current Award Period Ongoing
Project Number 1ZIAHD008903-01
Principal Investigator Porter, Forbes
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Federal
Institution National Institutes of Health
State/Country Maryland
Web Link 1 Hypocholesterolemic autism spectrum disorder (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A